BACKGROUND Gastrointestinal stromal tumors(GISTs)are rare mesenchymal neoplasms primarily originating in the stomach or small intestine.Duodenal GISTs are particularly uncommon,accounting for only a small fraction of ...BACKGROUND Gastrointestinal stromal tumors(GISTs)are rare mesenchymal neoplasms primarily originating in the stomach or small intestine.Duodenal GISTs are particularly uncommon,accounting for only a small fraction of GIST cases.These tumors often present with nonspecific symptoms,making early detection challenging.This case discusses a duodenal GIST misdiagnosed as pancreatic cancer due to obstructive jaundice.CASE SUMMARY A 40-year-old male with jaundice and abdominal symptoms underwent imaging,which suggested a malignant periampullary tumor.Preoperative misdiagnosis of pancreatic cancer was made,and surgery was performed.Postoperative histopathology confirmed a duodenal GIST.The role of artificial intelligence in the diagnostic pathway is explored,emphasizing its potential to differentiate between duodenal GISTs and other similar conditions using advanced imaging analysis.CONCLUSION Artificial intelligence in radiomic imaging holds significant promise in enhancing the diagnostic process for rare cancers like duodenal GISTs,ensuring timely and accurate treatment.展开更多
Objective:There is currently no consensus on whether extra-gastrointestinal stromal tumors(EGISTs)and gastrointestinal stromal tumors(GISTs)are the same type of tumor,and whether the diagnosis and treatment of EGISTs ...Objective:There is currently no consensus on whether extra-gastrointestinal stromal tumors(EGISTs)and gastrointestinal stromal tumors(GISTs)are the same type of tumor,and whether the diagnosis and treatment of EGISTs can directly replicate the current diagnostic and treatment standards for GISTs.This study aims to further elucidate the clinical and pathological characteristics,diagnosis,treatment,and prognosis of EGISTs by analyzing the research results of domestic scholars in the field of EGISTs in the past decade.Methods:A review was conducted on original Chinese and English research articles published from 2013 to 2022 focusing on EGISTs.A descriptive approach was used to extract key information from the literature,including patient demographics,tumor location,tumor diameter,mitotic figures,risk stratification,immunohistochemical markers,cell type,and prognostic factors.The data were subjected to statistical analysis.Results:A total of 12 articles containing 780 EGIST patients were included.The male-to female incidence of EGISTs was 0.92꞉1.The most common sites of EGISTs were mesentery(30.96%),peritoneum or retroperitoneum(28.53%),omentum(20.32%),and pelvic cavity(12.52%).52.77%of EGISTs had tumor diameters greater than 10 cm,and the proportions of EGISTs with nuclear fission patterns greater than 5/50 high power field(HPF)and greater than 10/50 HPF were 51.24%and 26.11%,respectively.The proportion of high-risk EGISTs was 79.05%.The positive rates of immune markers CD117,CD34,and DOG-1 in EGISTs were 82.3%,69.0%,and 79.5%,respectively.The proportion of Ki-67>5%was 49.2%,and the proportion of Ki-67>10%was 24.8%.The proportions of EGISTs in spindle cells,epithelial cells,and mixed cells were 74.4%,14.8%,and 13.1%,respectively.The diameter of the tumor,resection method,risk level,Ki-67 index,mitotic counts,presence of rupture/bleeding/necrosis/peripheral tissue invasion/recurrence and metastasis,as well as the use of imatinib treatment after surgery were important factors affecting the prognosis of EGISTs.Conclusion:Current medical research is relatively well cognizant of GISTs with primary sites in the gastrointestinal tract.Compared with GISTs,EGISTs have large tumor diameters,high mitotic counts,a high percentage of high-risk grades,relatively unique molecular expression,and high aggressiveness.EGISTs differ from GISTs in clinicopathological characteristics.Whether EGISTs and GISTs share a common origin remains unclear.If they are distinct tumor entities,separate diagnostic and treatment guidelines for EGISTs should be established.If EGISTs are ultimately confirmed to be a special subtype of GISTs,then directly applying existing GIST-based standards to EGISTs may be inappropriate.A more scientific approach would involve subclassifying EGISTs based on anatomical location and then tailoring treatment strategies accordingly with reference to GIST guidelines.展开更多
While rare,esophageal gastrointestinal stromal tumors(GISTs)have higher mali-gnant potential and are typically diagnosed at larger sizes compared to gastric GISTs.However,well-defined guidelines for their optimal mana...While rare,esophageal gastrointestinal stromal tumors(GISTs)have higher mali-gnant potential and are typically diagnosed at larger sizes compared to gastric GISTs.However,well-defined guidelines for their optimal management remain lacking.Most esophageal GISTs are surgically managed with enucleation,while esophagectomy is reserved for larger tumors.Recent advances in endoscopic techniques,such as endoscopic submucosal dissection and submucosal tunneling endoscopic resection(ER),have allowed for endoscopic removal of submucosal esophageal lesions,including GISTs.Xu et al reported on the clinical and on-cological outcomes of 32 patients with esophageal GISTs treated with ER.The study demonstrated high en bloc resection rates and favorable 5-year overall survival and disease-free survival.However,it primarily focused on small,inci-dentally detected GISTs,with 75%of cases classified as very low or low risk according to the National Institutes of Health criteria.The authors favored the submucosal tunneling ER technique despite its procedural challenges in the upper esophagus.In this editorial,we briefly discuss the advantages and limitations of endoscopic techniques compared to surgical approaches.We also emphasize the need to establish specific management criteria for submucosal esophageal lesions to guide clinical practice.展开更多
This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patient...This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patients with familial GISTs.The actual incidence of GISTs may be underestimated due to diagnostic limitations and the long-term low-risk behavior of some GISTs.The molecular landscape of GISTs is primarily driven by mutations in the KIT and platelet-derived growth factor receptor alpha(PDGFRA)genes.A subset of GISTs without these mutations known as wild-type GISTs,may harbor other rare mutations,impacting their response to targeted therapies.Clinically,patients with GISTs present with nonspecific symptoms,often leading to delayed diagnosis.Genetic predispositions in familial GISTs provide insights into the genetic architecture and extragastrointestinal manifestations of GISTs.Management has evolved from surgical interventions to molecular-based therapies using tyrosine kinase inhibitors.The management of GISTs,especially in familial cases,requires a multidisciplinary approach.Cases of different gene mutations were reported in the same family,suggesting that incorporating genetic testing into routine clinical practice is crucial for the early identification of high-risk individuals and the implementation of tailored surveillance programs.展开更多
BACKGROUND Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract,and gastric gastrointestinal stromal tumors(gGISTs)account for the majority of these tumors.Currently,end...BACKGROUND Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract,and gastric gastrointestinal stromal tumors(gGISTs)account for the majority of these tumors.Currently,endoscopic removal(ER)is increasingly adopted as a minimally invasive treatment.However,postoperative perforation remains a critical complication,necessitating robust prediction tools.AIM To identify the risk factors and develop a validated nomogram for predicting perforation after ER of gGISTs.METHODS This retrospective study analyzed the patients undergoing ER at Fuyang People’s Hospital from 2019 to 2024.Clinical data,including tumor size,location,and procedural details,were collected and analyzed.The risk factors were identified via univariate and multivariate logistic regression,and a nomogram was developed.Both internal and external validations were performed,and the model performance was assessed by receiver operating characteristic curves and calibration plots.RESULTS Among 301 patients,the perforation rate was 6.3%.Multivariate analysis identified tumor size(odds ratio=4.699,95%confidence interval:2.382-9.267,P=0.001)and cardia/fundus location(odds ratio=3.492,95%confidence interval:1.121-10.875,P=0.031)as independent predictors.A nomogram was constructed and achieved good predictive performance in both the training(area under the curve=0.881)and validation sets(area under the curve=0.878).CONCLUSION This study identified that tumor size and location were independent risk factors,and provides a clinically actionable nomogram for evaluating and predicting postoperative perforation risk in gGISTs treated with ER,facilitating preprocedural planning and risk monitoring.展开更多
Esophageal gastrointestinal stromal tumors(GISTs)are exceedingly rare,often detected incidentally due to their asymptomatic nature.Historically,esophagec-tomy or enucleation has been the standard treatment,but these p...Esophageal gastrointestinal stromal tumors(GISTs)are exceedingly rare,often detected incidentally due to their asymptomatic nature.Historically,esophagec-tomy or enucleation has been the standard treatment,but these procedures carry significant morbidity.The retrospective study by Xu et al provides compelling evidence that endoscopic resection(ER)is a viable,minimally invasive alternative for low-risk esophageal GISTs,demonstrating a high en bloc resection rate(96.9%)and favorable long-term oncologic outcomes,including a 5-year overall survival rate of 100%and disease-free survival of 90.6%.These results challenge the con-ventional surgical paradigm and highlight the need for a paradigm shift towards endoscopic approaches in carefully selected patients.However,several critical questions remain unanswered:What are the precise selection criteria for ER candidacy?How does ER compare to traditional surgical methods in terms of recurrence risk and long-term functional outcomes?Could neoadjuvant therapy enhance the feasibility of ER for larger lesions?As endoscopic techniques continue to evolve,interdisciplinary collaboration among gastroenterologists,oncologists,and surgeons will be crucial to refining treatment algorithms and optimizing patient outcomes.Future prospective studies and randomized trials are warranted to solidify the role of ER as the standard of care for esophageal GISTs.展开更多
Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract and arise from the interstitial cells of Cajal.They predominantly affect individuals between 50 and 70 years o...Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract and arise from the interstitial cells of Cajal.They predominantly affect individuals between 50 and 70 years of age and often carry malignant potential despite being frequently asymptomatic.The stomach and small intestine are the most common locations,while involvement of the esophagus,colon,or rectum is relatively rare.GISTs are often discovered incidentally during endoscopic or radiologic evaluations,and the diagnosis is confirmed through tissue biopsy and immunohistochemical staining,particularly for KIT(CD117),DOG1,and PDGFRA.In the past decade,laparoscopic resection has been considered the standard treatment for localized GISTs smaller than 5 cm.However,recent advances in endoscopic technology have led to a growing role for endoscopic resection as a safe and effective treatment option for selected nonmetastatic GISTs.Endoscopic techniques such as endoscopic submucosal dissection,endoscopic submucosal excavation,submucosal tunneling endoscopic resection,and endoscopic full-thickness resection have demonstrated favorable outcomes,including high complete resection(R0)rates,shorter hospital stays,and quicker recovery compared to traditional surgery.The selection of an appropriate resection method depends on tumor size,location,depth of invasion,and proximity to vital structures.Endoscopic ultrasound has become an essential tool for preprocedural assessment,providing detailed information on tumor characteristics and helping to guide management decisions.While endoscopic resection is a promising minimally invasive approach,it should be performed by skilled endoscopists with appropriate training due to the technical complexity and risk of complications such as bleeding or perforation.This review summarizes recent developments in endoscopic resection of GISTs,with a focus on indications,procedural safety,clinical outcomes,and recommendations for optimal patient selection and procedural planning.展开更多
BACKGROUND Hepatic hemangiomas can be challenging to diagnose,particularly when they present with atypical features that mimic other conditions,such as gastrointestinal stromal tumors(GISTs).This case highlights the d...BACKGROUND Hepatic hemangiomas can be challenging to diagnose,particularly when they present with atypical features that mimic other conditions,such as gastrointestinal stromal tumors(GISTs).This case highlights the diagnostic difficulties encountered when imaging subepithelial lesions,especially when conventional methods such as computed tomography(CT)and endoscopic ultrasound(EUS)are used.CASE SUMMARY A 44-year-old woman presented with intermittent abdominal distension and heartburn for three months.Her medical history included iron deficiency anemia,menorrhagia,and previous cholecystectomy.One week prior to admission,an endoscopy suggested a bulging gastric fundus,which was likely a GIST,along with chronic nonatrophic gastritis and bile reflux.CT and EUS revealed nodules in the gastric fundus,which were initially considered benign tumors with a differential diagnosis of stromal tumor or leiomyoma.During surgery,unexpected lesions were found in the liver pressing against the gastric fundus,leading to laparoscopic liver resection.Postoperative pathology confirmed the diagnosis of hepatic cavernous hemangiomas.The patient recovered well and was discharged five days later,with normal follow-up results at three months.CONCLUSION This case underscores the challenges in the preoperative diagnosis of GISTs,particularly the limitations of the use of CT and EUS for the evaluation of subepithelial lesions.While CT is the primary tool for visualizing abdominal tumors,it is difficult to detect smaller lesions and assess the layers of the gastrointestinal wall on CT.EUS is recommended for the evaluation of nodules smaller than 2 cm and is useful for distinguishing GISTs from other lesions;however,its accuracy with regard to the differential diagnosis is relatively low.In this case,the gastric distension observed on imaging led to the compression of a liver tumor against the stomach,resulting in the misinterpretation of the tumor as a gastric wall lesion.展开更多
Decisions regarding the management of patients with esophageal gastrointestinal tumors(EGISTs)are very challenging,as there are still no clear guidelines on the treatment of these tumors due to their rarity.Surgery re...Decisions regarding the management of patients with esophageal gastrointestinal tumors(EGISTs)are very challenging,as there are still no clear guidelines on the treatment of these tumors due to their rarity.Surgery remains the standard treatment,but it is known that surgical procedures performed on the esophagus are related to a high risk of serious postoperative complications and impaired quality of life.Endoscopic resection is both safe and effective for patients with low-risk EGISTs.This article presents the current therapeutic options in patients with EGISTs,including both the endoscopic and surgical approach,and discusses the results,strengths and limitations of the recent article by Xu et al regarding the endoscopic treatment outcome of EGISTs.展开更多
Xu et al retrospectively assessed endoscopic resection(ER)for esophageal gastrointestinal stromal tumors(E-GISTs)and reported excellent 5-year survival rates.Although ER shows promise as a minimally invasive procedure...Xu et al retrospectively assessed endoscopic resection(ER)for esophageal gastrointestinal stromal tumors(E-GISTs)and reported excellent 5-year survival rates.Although ER shows promise as a minimally invasive procedure,the 75%R0 resection rate with recurrence observed even after R0 resection warrants further discussion.We highlight the need for careful patient selection based on tumor size,location,and risk,considering endoscopic and thoracoscopic approaches.Future studies should refine ER techniques,optimize patient selection,and establish long-term follow-up to guide E-GIST management.展开更多
In this editorial we comment on the article published in the recent issue of World Journal of Gastrointestinal Oncology.This study aims to explore the relationship be-tween preoperative inflammation markers and the re...In this editorial we comment on the article published in the recent issue of World Journal of Gastrointestinal Oncology.This study aims to explore the relationship be-tween preoperative inflammation markers and the recurrence of gastrointestinal stromal tumors(GIST)after surgery.It is well known that the best-documented prognostic parameters for GIST are mitotic activity,tumor size and anatomical site.Besides,mutation status represents a prognostic as well as predictive factor.This study provides a new tool for postoperative recurrence risk assessment of GIST patients by establishing a line chart prediction model,which is certificated by previous research that high platelet-to-lymphocyte ratio and neutrophil-to-lymphocyte ratio correlated with increased tumour sizes,more advanced tumour stages and mitotic index.However,as a retrospective study,inevitable bias exists in the results;furthermore,the sample size of this study is relatively small,in-fluencing the universality of the results.Moreover,when assessing risk rating and prognosis of GIST,some novel inflammatory makers could be taken into consi-deration,such as proenkephalin and SLITRK3.Overall,this study can offer an additional model for GIST prognosis and recurrence risk assessment,indepen-dent of the traditional prognostic factors of GIST.展开更多
Gastrointestinal stromal tumors(GISTs)feature a unique tumor microenvironment(TME)with abundant immune infiltrates,including CD8+T cells and tertiary lymphoid structures,alongside significant immune escape mechanisms ...Gastrointestinal stromal tumors(GISTs)feature a unique tumor microenvironment(TME)with abundant immune infiltrates,including CD8+T cells and tertiary lymphoid structures,alongside significant immune escape mechanisms such as indoleamine 2,3-dioxygenase(IDO)overexpression,MHC I loss,and regulatory T-cell activity.These factors contribute to an immunosuppressive TME,limiting the effectiveness of immune responses.Recent proteomic and immune profiling has identified distinct immune clusters,ranging from highly infiltrated"hot"tumors to immune-desert"cold"tumors,offering new insights into immune heterogeneity and prognostic stratification.While tyrosine kinase inhibitors(TKIs)like imatinib have shown immunomodulatory effects,clinical trials with immune checkpoint inhibitors(ICIs)alone or in combination have yielded modest outcomes.This editorial examines the immunologic landscape of GIST,explores the interplay between ICIs and TKIs,and highlights emerging therapeutic strategies such as IDO inhibition,bispecific antibodies,and patient selection based on TME characteristics.These insights pave the way for more effective immunotherapy approaches in GIST.展开更多
Background:KIT proto-oncogene,receptor tyrosine kinase(KIT,CD117)and platelet-derived growth factor-alpha(PDGFRA)are key drivers of gastrointestinal stromal tumors(GIST),but resistance to targeted therapy often arises...Background:KIT proto-oncogene,receptor tyrosine kinase(KIT,CD117)and platelet-derived growth factor-alpha(PDGFRA)are key drivers of gastrointestinal stromal tumors(GIST),but resistance to targeted therapy often arises from tumor protein p53(p53)alterations and loss of cell cycle control.However,the role of p53 status in GIST therapeutic potential has rarely been studied,so this study aimed to employ both wild-type andmutant p53 GIST models to investigate how p53 dysfunction influences the efficacy of p53 pathway-targeted therapies.Methods:The efficacy of the mouse double minute 2 homolog(MDM2)inhibitor(HDM201)and the Wee1 G2 checkpoint kinase(Wee1)inhibitor(adavosertib)was confirmed in both p53 wild-type(p53 WT)and p53 mutant(p53 MT)GIST cells.The anti-proliferative effects were assessed using the Cell Counting Kit-8(CCK-8)assay.Flow cytometry(FACS)and immunoblotting were employed to evaluate apoptosis and the expression of proteins related to drug efficacy.These findings were further validated in a xenograft model.Results:HDM201 selectively inhibited growth and triggered apoptosis in p53WT GIST cells,while adavosertib was effective mainly in p53 MT cells.Western blot analysis revealed thatHDM201 increased p53 and p21 levels in p53WT cells,and adavosertib affectedWee1 and phospho-cdc2 expression in both p53WT and p53 MT cells.In a xenograft mouse model,HDM201 significantly reduced the tumor volume and weight in p53WTGIST cells,whereas p53MT tumors showed only a moderate size reduction with adavosertib,without significant changes.Conclusions:Our results highlight the importance of p53 status in guiding GIST treatment.p53 WT tumors respond toMDM2 inhibitors,while p53 MTtumors show greater sensitivity toWee1 inhibitors,supporting p53 pathway targeting as a promising strategy for GIST patients.展开更多
BACKGROUND Extragastrointestinal stromal tumors(EGIST)and gastrointestinal stromal tumors are of similar pathological type and form.Here we report a rare case of EGIST diffusely distributed in membranous tissue in abd...BACKGROUND Extragastrointestinal stromal tumors(EGIST)and gastrointestinal stromal tumors are of similar pathological type and form.Here we report a rare case of EGIST diffusely distributed in membranous tissue in abdominal cavity,the feature of which included diffuse tumors at membranous tissue in entire abdominal cavity and spontaneous bleeding of the tumors.CASE SUMMARY The patient was a 71-year man and hospitalized due to continuous pain at lower abdomen for more than 10 days.Upon physical examination,the patient had flat and tough abdomen with mild pressing pain at lower abdomen,no obvious abdominal mass was touchable,and shifting dullness was positive.Positron emission tomography-computed tomography(CT)showed that in his peritoneal cavity,there were multiple nodules of various sizes,seroperitoneum,multiple enlarged lymph nodes in abdominal/pelvic cavity and right external ilium as well as pulmonary nodules.Plain CT scanning at epigastrium/hypogastrium/pelvic cavity+enhanced three-dimensional reconstruction revealed multiple soft tissue nodules in abdominal/pelvic cavity,peritoneum and right groin.Tumor marker of carbohydrate antigen 125 was 808 U/mL,diffuse tuberous tumor was seen in abdominal/pelvic cavity during operation with hematocelia,and postoperative pathological examination confirmed EGIST.Imatinib was administered with better therapeutic effect.CONCLUSION Gene testing showed breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 and KIT genovariation,and the patient was treated with imatinib follow-up visit found that his clinical symptoms disappeared and the tumor load alleviated obviously via imageological examination.展开更多
BACKGROUND Gastrointestinal stromal tumors(GISTs)are generally characterized by driver mutations in KIT or PDGFRA.However,the molecular landscape of wild-type GISTs remains complex,posing significant therapeutic chall...BACKGROUND Gastrointestinal stromal tumors(GISTs)are generally characterized by driver mutations in KIT or PDGFRA.However,the molecular landscape of wild-type GISTs remains complex,posing significant therapeutic challenges.Recent evidence has indicated alterations in FGFR2 as potential oncogenic drivers in patients with various cancers.However,the role of these drivers in GIST pathogenesis remains underexplored.CASE SUMMARY We retrospectively evaluated two patients with GIST,diagnosed between August 2021 and July 2022,harboring FGFR2 mutations through hybrid capture-based next-generation sequencing(NGS).We analyzed their clinicopathological characteristics,treatment response,and long-term follow-up data.Both patients,a 47-year-old man(case 1)and a 43-year-old woman(case 2),underwent successful surgical resection and received adjuvant imatinib therapy.They achieved sustained remission with a median follow-up of 28 months.Notably,the NGS revealed novel FGFR2 rearrangements,an FGFR2-CIT/intergenic-FGFR2 fusion in case 1 and FGFR2-CAMK2G/FGFR2-VCL fusions in case 2 without canonical KIT or PDGFRA mutations.Both patients exhibited a favorable response to standard imatinib treatment.CONCLUSION Our findings provided preliminary evidence that novel FGFR2 fusions might act as primary oncogenic drivers in a rare subset of KIT/PDGFRA wild-type GISTs.These cases highlight the importance for comprehensive genomic profiling and suggest that fibroblast growth factor receptor-targeted inhibitors could be a potential therapeutic strategy for advanced or imatinib-resistant diseases,warranting further investigation in larger cohorts.展开更多
BACKGROUND For patients with advanced gastrointestinal stromal tumors(GISTs)carrying the ckit exon 11 mutation,imatinib(IM)at a standard dosage of 400 mg per day is the preferred first-line treatment.In cases where tr...BACKGROUND For patients with advanced gastrointestinal stromal tumors(GISTs)carrying the ckit exon 11 mutation,imatinib(IM)at a standard dosage of 400 mg per day is the preferred first-line treatment.In cases where treatment with IM fails,there is an urgent need for a more precise assessment method to determine whether to switch therapies or escalate the IM dosage.This approach will enhance clinical decision-making and optimize patient outcomes.AIM To investigate IM plasma concentration’s role in second-line treatment decisions for c-kit 11-mutated advanced GISTs post-IM failure.METHODS Patients with advanced GIST harboring c-kit 11 mutation who experienced failure with IM 400 mg per day as first-line treatment at our hospital were retrospectively analyzed.Patients were categorized into a low plasma(LP)concentration group(LP group,<1100 ng/mL)and high plasma(HP)concentration group(HP group,≥1100 ng/mL).Each group was further subdivided into Group A(dose-escalation group)and Group B(drug-switch group).Baseline characteristics were compared and Kaplan-Meier curves were used to analyze the survival of patients.RESULTS Seventy-five patients were included in the analysis.For the LP group(n=28),Group A(n=14)had longer overall survival(OS)than Group B(n=14)(P=0.02).No differences were observed between the two subgroups in disease control rate(DCR),objective response rate,and progression-free survival(PFS)(P>0.05).For the HP group(n=47),Group B(n=18)had a higher DCR and longer PFS than Group A(n=29)(P=0.008 and P=0.03,respectively).No difference in OS was observed between the two subgroups(P>0.05).CONCLUSION Increasing IM dosage for c-kit 11-mutated advanced GISTs post-IM failure may prolong OS if plasma concentration is<1100 ng/mL.Switching tyrosine kinase inhibitors may improve DCR and PFS if≥1100 ng/mL.展开更多
BACKGROUND Preoperative distinguishing between benign and malignant gastrointestinal stromal tumors(GISTs)poses a challenge.Ultrasound elastography has emerged as a promising diagnostic tool;however,further investigat...BACKGROUND Preoperative distinguishing between benign and malignant gastrointestinal stromal tumors(GISTs)poses a challenge.Ultrasound elastography has emerged as a promising diagnostic tool;however,further investigation is needed to assess its diagnostic accuracy in evaluating GISTs.AIM To evaluate the accuracy of ultrasound elastography for differentiating between benign and malignant GISTs.METHODS This prospective study included 110 patients with 103 histopathologically confirmed GISTs between January 2021 and December 2023.All tumors underwent conventional ultrasound examination,strain elastography(SE),and shearwave elastography(SWE)before surgical resection.The study evaluated elastographic parameters such as strain ratio,elastographic patterns,mean elastic modulus,and heterogeneity index.Diagnostic performance was evaluated using receiver operating characteristic curve analysis,with histopathological diagnosis as the reference standard.RESULTS Of the 103 GISTs,45(43.7%)were benign and 58(56.3%)were malignant based on modified National Institutes of Health criteria.Malignant GISTs exhibited significantly higher strain ratios(4.82±1.73 vs 2.31±0.89;P<0.001)and mean elastic modulus values(45.6±15.8 kPa vs 21.3±8.4 kPa;P<0.001)than benign tumors.The optimal cutoff values were 3.45 for the strain ratio(sensitivity:84.5%,specificity:86.7%)and 32.5 kPa for the mean elastic modulus(sensitivity:87.9%,specificity:88.9%).The areas under the curve were 0.892 and 0.918,respectively.Interobserver agreement was excellent for both SE[intraclass correlation coefficient(ICC)=0.88]and SWE(ICC range:0.85-0.93)measurements.CONCLUSION Ultrasound elastography shows high diagnostic accuracy in distinguishing between benign and malignant GISTs.Combining SE and SWE provides complementary parameters for preoperative risk stratification.展开更多
Gastrointestinal stromal tumors(GISTs),the most prevalent mesenchymal tumors,often have poor outcomes due to high recurrence rates.However,the specific risk factors for GISTs,particularly those concerning the innate i...Gastrointestinal stromal tumors(GISTs),the most prevalent mesenchymal tumors,often have poor outcomes due to high recurrence rates.However,the specific risk factors for GISTs,particularly those concerning the innate immune-inflammatory response,remain poorly understood.This editorial highlights key prognostic factors that impact GIST progression and prognosis,while discussing the findings of a recent study that investigated the prognostic value of systemic inflammatory markers:systemic immune-inflammation index,neutrophil/lym-phocyte ratio,platelet/lymphocyte ratio,and monocyte/lymphocyte ratio,on recurrence-free survival in GIST patients.This editorial examines strategies to enhance the clinical applicability of the nomogram developed in the study,ensuring its effectiveness for robust implementation.Future directions outlined in the editorial stress the importance of integrating molecular insights,including KIT and PDGFRA mutations,tumor staging,and mitotic rates to refine predictive models.The editorial also underscores the value of multi-center studies to enhance the generalizability and clinical relevance of these approaches.By bridging inflammatory biomarkers with genetic and clinicopathologic factors,a more comprehensive understanding of GIST pathophysiology can be developed,paving the way for improved management strategies and patient outcomes.This perspective serves as a call to action for continued research into the interplay between genetic mutations,inflammatory marker modulation,and GIST progression,aiming to expand the scope of personalized oncology through a deeper understanding of GIST progression.展开更多
BACKGROUND The use of endoscopic surgery for treating gastrointestinal stromal tumors(GISTs)between 2 and 5 cm remains controversial considering the potential risk of metastasis and recurrence.Also,surgeons are facing...BACKGROUND The use of endoscopic surgery for treating gastrointestinal stromal tumors(GISTs)between 2 and 5 cm remains controversial considering the potential risk of metastasis and recurrence.Also,surgeons are facing great difficulties and challenges in assessing the malignant potential of 2-5 cm gastric GISTs.AIM To develop and evaluate computerized tomography(CT)-based radiomics for predicting the malignant potential of primary 2-5 cm gastric GISTs.METHODS A total of 103 patients with pathologically confirmed gastric GISTs between 2 and 5 cm were enrolled.The malignant potential was categorized into low grade and high grade according to postoperative pathology results.Preoperative CT images were reviewed by two radiologists.A radiological model was constructed by CT findings and clinical characteristics using logistic regression.Radiomic features were extracted from preoperative contrast-enhanced CT images in the arterial phase.The XGboost method was used to construct a radiomics model for the prediction of malignant potential.Nomogram was established by combing the radiomics score with CT findings.All of the models were developed in a training group(n=69)and evaluated in a test group(n=34).RESULTS The area under the curve(AUC)value of the radiological,radiomics,and nomogram models was 0.753(95%confidence interval[CI]:0.597-0.909),0.919(95%CI:0.828-1.000),and 0.916(95%CI:0.801-1.000)in the training group vs 0.642(95%CI:0.379-0.870),0.881(95%CI:0.772-0.990),and 0.894(95%CI:0.773-1.000)in the test group,respectively.The AUC of the nomogram model was significantly larger than that of the radiological model in both the training group(Z=2.795,P=0.0052)and test group(Z=2.785,P=0.0054).The decision curve of analysis showed that the nomogram model produced increased benefit across the entire risk threshold range.CONCLUSION Radiomics may be an effective tool to predict the malignant potential of 2-5 cm gastric GISTs and assist preoperative clinical decision making.展开更多
Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are dr...Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are driven by mutations commonly found in the KIT gene and less commonly in the platelet-derived growth factor receptor alpha gene,BRAF gene and succinate dehydrogenase gene. GISTs behave in a spectrum of malignant potential,and both the tumor size and mitotic index are the most commonly used prognostic criteria. Whilst surgical resection can offer the best cure,targeted therapy in the form of tyrosine kinase inhibitors(TKIs) has revolutionized the management options. As the first-line TKI,imatinib offers treatment for advanced and metastatic GISTs,adjuvant therapy in high-risk GISTs and as a neoadjuvant agent to downsize large tumors prior to resection. The emergence of drug resistance has altered some treatment options,including prolonging the first-line TKI from 1 to 3 years,increasing the dose of TKI or switching to second-line TKI. Other newer TKIs,such as sunitinib and regorafenib,may offer some treatment options for imatinib-resistant GISTs. New molecular targeted therapies are being evaluated,such as inhibitors of BRAF,heat shock protein 90,glutamine and mitogenactivated protein kinase signaling,as well as inhibitors of apoptosis proteins antagonist and even immunotherapy. This editorial review summarizes the recent research trials and potential treatment targets that may influence our future patient-specific management of GISTs. The current guidelines in GIST management from Europe,North America and Asia are highlighted.展开更多
文摘BACKGROUND Gastrointestinal stromal tumors(GISTs)are rare mesenchymal neoplasms primarily originating in the stomach or small intestine.Duodenal GISTs are particularly uncommon,accounting for only a small fraction of GIST cases.These tumors often present with nonspecific symptoms,making early detection challenging.This case discusses a duodenal GIST misdiagnosed as pancreatic cancer due to obstructive jaundice.CASE SUMMARY A 40-year-old male with jaundice and abdominal symptoms underwent imaging,which suggested a malignant periampullary tumor.Preoperative misdiagnosis of pancreatic cancer was made,and surgery was performed.Postoperative histopathology confirmed a duodenal GIST.The role of artificial intelligence in the diagnostic pathway is explored,emphasizing its potential to differentiate between duodenal GISTs and other similar conditions using advanced imaging analysis.CONCLUSION Artificial intelligence in radiomic imaging holds significant promise in enhancing the diagnostic process for rare cancers like duodenal GISTs,ensuring timely and accurate treatment.
基金supported by the National Natural Science Foundation(81960508)。
文摘Objective:There is currently no consensus on whether extra-gastrointestinal stromal tumors(EGISTs)and gastrointestinal stromal tumors(GISTs)are the same type of tumor,and whether the diagnosis and treatment of EGISTs can directly replicate the current diagnostic and treatment standards for GISTs.This study aims to further elucidate the clinical and pathological characteristics,diagnosis,treatment,and prognosis of EGISTs by analyzing the research results of domestic scholars in the field of EGISTs in the past decade.Methods:A review was conducted on original Chinese and English research articles published from 2013 to 2022 focusing on EGISTs.A descriptive approach was used to extract key information from the literature,including patient demographics,tumor location,tumor diameter,mitotic figures,risk stratification,immunohistochemical markers,cell type,and prognostic factors.The data were subjected to statistical analysis.Results:A total of 12 articles containing 780 EGIST patients were included.The male-to female incidence of EGISTs was 0.92꞉1.The most common sites of EGISTs were mesentery(30.96%),peritoneum or retroperitoneum(28.53%),omentum(20.32%),and pelvic cavity(12.52%).52.77%of EGISTs had tumor diameters greater than 10 cm,and the proportions of EGISTs with nuclear fission patterns greater than 5/50 high power field(HPF)and greater than 10/50 HPF were 51.24%and 26.11%,respectively.The proportion of high-risk EGISTs was 79.05%.The positive rates of immune markers CD117,CD34,and DOG-1 in EGISTs were 82.3%,69.0%,and 79.5%,respectively.The proportion of Ki-67>5%was 49.2%,and the proportion of Ki-67>10%was 24.8%.The proportions of EGISTs in spindle cells,epithelial cells,and mixed cells were 74.4%,14.8%,and 13.1%,respectively.The diameter of the tumor,resection method,risk level,Ki-67 index,mitotic counts,presence of rupture/bleeding/necrosis/peripheral tissue invasion/recurrence and metastasis,as well as the use of imatinib treatment after surgery were important factors affecting the prognosis of EGISTs.Conclusion:Current medical research is relatively well cognizant of GISTs with primary sites in the gastrointestinal tract.Compared with GISTs,EGISTs have large tumor diameters,high mitotic counts,a high percentage of high-risk grades,relatively unique molecular expression,and high aggressiveness.EGISTs differ from GISTs in clinicopathological characteristics.Whether EGISTs and GISTs share a common origin remains unclear.If they are distinct tumor entities,separate diagnostic and treatment guidelines for EGISTs should be established.If EGISTs are ultimately confirmed to be a special subtype of GISTs,then directly applying existing GIST-based standards to EGISTs may be inappropriate.A more scientific approach would involve subclassifying EGISTs based on anatomical location and then tailoring treatment strategies accordingly with reference to GIST guidelines.
文摘While rare,esophageal gastrointestinal stromal tumors(GISTs)have higher mali-gnant potential and are typically diagnosed at larger sizes compared to gastric GISTs.However,well-defined guidelines for their optimal management remain lacking.Most esophageal GISTs are surgically managed with enucleation,while esophagectomy is reserved for larger tumors.Recent advances in endoscopic techniques,such as endoscopic submucosal dissection and submucosal tunneling endoscopic resection(ER),have allowed for endoscopic removal of submucosal esophageal lesions,including GISTs.Xu et al reported on the clinical and on-cological outcomes of 32 patients with esophageal GISTs treated with ER.The study demonstrated high en bloc resection rates and favorable 5-year overall survival and disease-free survival.However,it primarily focused on small,inci-dentally detected GISTs,with 75%of cases classified as very low or low risk according to the National Institutes of Health criteria.The authors favored the submucosal tunneling ER technique despite its procedural challenges in the upper esophagus.In this editorial,we briefly discuss the advantages and limitations of endoscopic techniques compared to surgical approaches.We also emphasize the need to establish specific management criteria for submucosal esophageal lesions to guide clinical practice.
基金National Natural Science Foundation of China,No.82370569Basic and Applied Basic Research Foundation of Guangdong Province,No.2022A1515012647the Key Program for Science and Technology Projects of Social Development in Zhuhai,No.2220004000249(to Li XF).
文摘This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors(GISTs).We read with great interest this article concerning the diagnosis,treatment,and post-treatment management of patients with familial GISTs.The actual incidence of GISTs may be underestimated due to diagnostic limitations and the long-term low-risk behavior of some GISTs.The molecular landscape of GISTs is primarily driven by mutations in the KIT and platelet-derived growth factor receptor alpha(PDGFRA)genes.A subset of GISTs without these mutations known as wild-type GISTs,may harbor other rare mutations,impacting their response to targeted therapies.Clinically,patients with GISTs present with nonspecific symptoms,often leading to delayed diagnosis.Genetic predispositions in familial GISTs provide insights into the genetic architecture and extragastrointestinal manifestations of GISTs.Management has evolved from surgical interventions to molecular-based therapies using tyrosine kinase inhibitors.The management of GISTs,especially in familial cases,requires a multidisciplinary approach.Cases of different gene mutations were reported in the same family,suggesting that incorporating genetic testing into routine clinical practice is crucial for the early identification of high-risk individuals and the implementation of tailored surveillance programs.
文摘BACKGROUND Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract,and gastric gastrointestinal stromal tumors(gGISTs)account for the majority of these tumors.Currently,endoscopic removal(ER)is increasingly adopted as a minimally invasive treatment.However,postoperative perforation remains a critical complication,necessitating robust prediction tools.AIM To identify the risk factors and develop a validated nomogram for predicting perforation after ER of gGISTs.METHODS This retrospective study analyzed the patients undergoing ER at Fuyang People’s Hospital from 2019 to 2024.Clinical data,including tumor size,location,and procedural details,were collected and analyzed.The risk factors were identified via univariate and multivariate logistic regression,and a nomogram was developed.Both internal and external validations were performed,and the model performance was assessed by receiver operating characteristic curves and calibration plots.RESULTS Among 301 patients,the perforation rate was 6.3%.Multivariate analysis identified tumor size(odds ratio=4.699,95%confidence interval:2.382-9.267,P=0.001)and cardia/fundus location(odds ratio=3.492,95%confidence interval:1.121-10.875,P=0.031)as independent predictors.A nomogram was constructed and achieved good predictive performance in both the training(area under the curve=0.881)and validation sets(area under the curve=0.878).CONCLUSION This study identified that tumor size and location were independent risk factors,and provides a clinically actionable nomogram for evaluating and predicting postoperative perforation risk in gGISTs treated with ER,facilitating preprocedural planning and risk monitoring.
文摘Esophageal gastrointestinal stromal tumors(GISTs)are exceedingly rare,often detected incidentally due to their asymptomatic nature.Historically,esophagec-tomy or enucleation has been the standard treatment,but these procedures carry significant morbidity.The retrospective study by Xu et al provides compelling evidence that endoscopic resection(ER)is a viable,minimally invasive alternative for low-risk esophageal GISTs,demonstrating a high en bloc resection rate(96.9%)and favorable long-term oncologic outcomes,including a 5-year overall survival rate of 100%and disease-free survival of 90.6%.These results challenge the con-ventional surgical paradigm and highlight the need for a paradigm shift towards endoscopic approaches in carefully selected patients.However,several critical questions remain unanswered:What are the precise selection criteria for ER candidacy?How does ER compare to traditional surgical methods in terms of recurrence risk and long-term functional outcomes?Could neoadjuvant therapy enhance the feasibility of ER for larger lesions?As endoscopic techniques continue to evolve,interdisciplinary collaboration among gastroenterologists,oncologists,and surgeons will be crucial to refining treatment algorithms and optimizing patient outcomes.Future prospective studies and randomized trials are warranted to solidify the role of ER as the standard of care for esophageal GISTs.
文摘Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal tract and arise from the interstitial cells of Cajal.They predominantly affect individuals between 50 and 70 years of age and often carry malignant potential despite being frequently asymptomatic.The stomach and small intestine are the most common locations,while involvement of the esophagus,colon,or rectum is relatively rare.GISTs are often discovered incidentally during endoscopic or radiologic evaluations,and the diagnosis is confirmed through tissue biopsy and immunohistochemical staining,particularly for KIT(CD117),DOG1,and PDGFRA.In the past decade,laparoscopic resection has been considered the standard treatment for localized GISTs smaller than 5 cm.However,recent advances in endoscopic technology have led to a growing role for endoscopic resection as a safe and effective treatment option for selected nonmetastatic GISTs.Endoscopic techniques such as endoscopic submucosal dissection,endoscopic submucosal excavation,submucosal tunneling endoscopic resection,and endoscopic full-thickness resection have demonstrated favorable outcomes,including high complete resection(R0)rates,shorter hospital stays,and quicker recovery compared to traditional surgery.The selection of an appropriate resection method depends on tumor size,location,depth of invasion,and proximity to vital structures.Endoscopic ultrasound has become an essential tool for preprocedural assessment,providing detailed information on tumor characteristics and helping to guide management decisions.While endoscopic resection is a promising minimally invasive approach,it should be performed by skilled endoscopists with appropriate training due to the technical complexity and risk of complications such as bleeding or perforation.This review summarizes recent developments in endoscopic resection of GISTs,with a focus on indications,procedural safety,clinical outcomes,and recommendations for optimal patient selection and procedural planning.
基金Supported by the Natural Science Foundation of Gansu Province,No.24JRRA347.
文摘BACKGROUND Hepatic hemangiomas can be challenging to diagnose,particularly when they present with atypical features that mimic other conditions,such as gastrointestinal stromal tumors(GISTs).This case highlights the diagnostic difficulties encountered when imaging subepithelial lesions,especially when conventional methods such as computed tomography(CT)and endoscopic ultrasound(EUS)are used.CASE SUMMARY A 44-year-old woman presented with intermittent abdominal distension and heartburn for three months.Her medical history included iron deficiency anemia,menorrhagia,and previous cholecystectomy.One week prior to admission,an endoscopy suggested a bulging gastric fundus,which was likely a GIST,along with chronic nonatrophic gastritis and bile reflux.CT and EUS revealed nodules in the gastric fundus,which were initially considered benign tumors with a differential diagnosis of stromal tumor or leiomyoma.During surgery,unexpected lesions were found in the liver pressing against the gastric fundus,leading to laparoscopic liver resection.Postoperative pathology confirmed the diagnosis of hepatic cavernous hemangiomas.The patient recovered well and was discharged five days later,with normal follow-up results at three months.CONCLUSION This case underscores the challenges in the preoperative diagnosis of GISTs,particularly the limitations of the use of CT and EUS for the evaluation of subepithelial lesions.While CT is the primary tool for visualizing abdominal tumors,it is difficult to detect smaller lesions and assess the layers of the gastrointestinal wall on CT.EUS is recommended for the evaluation of nodules smaller than 2 cm and is useful for distinguishing GISTs from other lesions;however,its accuracy with regard to the differential diagnosis is relatively low.In this case,the gastric distension observed on imaging led to the compression of a liver tumor against the stomach,resulting in the misinterpretation of the tumor as a gastric wall lesion.
文摘Decisions regarding the management of patients with esophageal gastrointestinal tumors(EGISTs)are very challenging,as there are still no clear guidelines on the treatment of these tumors due to their rarity.Surgery remains the standard treatment,but it is known that surgical procedures performed on the esophagus are related to a high risk of serious postoperative complications and impaired quality of life.Endoscopic resection is both safe and effective for patients with low-risk EGISTs.This article presents the current therapeutic options in patients with EGISTs,including both the endoscopic and surgical approach,and discusses the results,strengths and limitations of the recent article by Xu et al regarding the endoscopic treatment outcome of EGISTs.
文摘Xu et al retrospectively assessed endoscopic resection(ER)for esophageal gastrointestinal stromal tumors(E-GISTs)and reported excellent 5-year survival rates.Although ER shows promise as a minimally invasive procedure,the 75%R0 resection rate with recurrence observed even after R0 resection warrants further discussion.We highlight the need for careful patient selection based on tumor size,location,and risk,considering endoscopic and thoracoscopic approaches.Future studies should refine ER techniques,optimize patient selection,and establish long-term follow-up to guide E-GIST management.
文摘In this editorial we comment on the article published in the recent issue of World Journal of Gastrointestinal Oncology.This study aims to explore the relationship be-tween preoperative inflammation markers and the recurrence of gastrointestinal stromal tumors(GIST)after surgery.It is well known that the best-documented prognostic parameters for GIST are mitotic activity,tumor size and anatomical site.Besides,mutation status represents a prognostic as well as predictive factor.This study provides a new tool for postoperative recurrence risk assessment of GIST patients by establishing a line chart prediction model,which is certificated by previous research that high platelet-to-lymphocyte ratio and neutrophil-to-lymphocyte ratio correlated with increased tumour sizes,more advanced tumour stages and mitotic index.However,as a retrospective study,inevitable bias exists in the results;furthermore,the sample size of this study is relatively small,in-fluencing the universality of the results.Moreover,when assessing risk rating and prognosis of GIST,some novel inflammatory makers could be taken into consi-deration,such as proenkephalin and SLITRK3.Overall,this study can offer an additional model for GIST prognosis and recurrence risk assessment,indepen-dent of the traditional prognostic factors of GIST.
文摘Gastrointestinal stromal tumors(GISTs)feature a unique tumor microenvironment(TME)with abundant immune infiltrates,including CD8+T cells and tertiary lymphoid structures,alongside significant immune escape mechanisms such as indoleamine 2,3-dioxygenase(IDO)overexpression,MHC I loss,and regulatory T-cell activity.These factors contribute to an immunosuppressive TME,limiting the effectiveness of immune responses.Recent proteomic and immune profiling has identified distinct immune clusters,ranging from highly infiltrated"hot"tumors to immune-desert"cold"tumors,offering new insights into immune heterogeneity and prognostic stratification.While tyrosine kinase inhibitors(TKIs)like imatinib have shown immunomodulatory effects,clinical trials with immune checkpoint inhibitors(ICIs)alone or in combination have yielded modest outcomes.This editorial examines the immunologic landscape of GIST,explores the interplay between ICIs and TKIs,and highlights emerging therapeutic strategies such as IDO inhibition,bispecific antibodies,and patient selection based on TME characteristics.These insights pave the way for more effective immunotherapy approaches in GIST.
基金financially supported by grants from the Chang-Gung Memorial Hospital(CMRPG3J0971~3,CMRPVVP0111,and CMRPVVQ0041 to CEWCMRPG3P0101 to HJS)the National Science and Technology Council(113-2628-B-182-001-MY3 and 113-2811-B-182-024 to CEW).
文摘Background:KIT proto-oncogene,receptor tyrosine kinase(KIT,CD117)and platelet-derived growth factor-alpha(PDGFRA)are key drivers of gastrointestinal stromal tumors(GIST),but resistance to targeted therapy often arises from tumor protein p53(p53)alterations and loss of cell cycle control.However,the role of p53 status in GIST therapeutic potential has rarely been studied,so this study aimed to employ both wild-type andmutant p53 GIST models to investigate how p53 dysfunction influences the efficacy of p53 pathway-targeted therapies.Methods:The efficacy of the mouse double minute 2 homolog(MDM2)inhibitor(HDM201)and the Wee1 G2 checkpoint kinase(Wee1)inhibitor(adavosertib)was confirmed in both p53 wild-type(p53 WT)and p53 mutant(p53 MT)GIST cells.The anti-proliferative effects were assessed using the Cell Counting Kit-8(CCK-8)assay.Flow cytometry(FACS)and immunoblotting were employed to evaluate apoptosis and the expression of proteins related to drug efficacy.These findings were further validated in a xenograft model.Results:HDM201 selectively inhibited growth and triggered apoptosis in p53WT GIST cells,while adavosertib was effective mainly in p53 MT cells.Western blot analysis revealed thatHDM201 increased p53 and p21 levels in p53WT cells,and adavosertib affectedWee1 and phospho-cdc2 expression in both p53WT and p53 MT cells.In a xenograft mouse model,HDM201 significantly reduced the tumor volume and weight in p53WTGIST cells,whereas p53MT tumors showed only a moderate size reduction with adavosertib,without significant changes.Conclusions:Our results highlight the importance of p53 status in guiding GIST treatment.p53 WT tumors respond toMDM2 inhibitors,while p53 MTtumors show greater sensitivity toWee1 inhibitors,supporting p53 pathway targeting as a promising strategy for GIST patients.
文摘BACKGROUND Extragastrointestinal stromal tumors(EGIST)and gastrointestinal stromal tumors are of similar pathological type and form.Here we report a rare case of EGIST diffusely distributed in membranous tissue in abdominal cavity,the feature of which included diffuse tumors at membranous tissue in entire abdominal cavity and spontaneous bleeding of the tumors.CASE SUMMARY The patient was a 71-year man and hospitalized due to continuous pain at lower abdomen for more than 10 days.Upon physical examination,the patient had flat and tough abdomen with mild pressing pain at lower abdomen,no obvious abdominal mass was touchable,and shifting dullness was positive.Positron emission tomography-computed tomography(CT)showed that in his peritoneal cavity,there were multiple nodules of various sizes,seroperitoneum,multiple enlarged lymph nodes in abdominal/pelvic cavity and right external ilium as well as pulmonary nodules.Plain CT scanning at epigastrium/hypogastrium/pelvic cavity+enhanced three-dimensional reconstruction revealed multiple soft tissue nodules in abdominal/pelvic cavity,peritoneum and right groin.Tumor marker of carbohydrate antigen 125 was 808 U/mL,diffuse tuberous tumor was seen in abdominal/pelvic cavity during operation with hematocelia,and postoperative pathological examination confirmed EGIST.Imatinib was administered with better therapeutic effect.CONCLUSION Gene testing showed breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 and KIT genovariation,and the patient was treated with imatinib follow-up visit found that his clinical symptoms disappeared and the tumor load alleviated obviously via imageological examination.
文摘BACKGROUND Gastrointestinal stromal tumors(GISTs)are generally characterized by driver mutations in KIT or PDGFRA.However,the molecular landscape of wild-type GISTs remains complex,posing significant therapeutic challenges.Recent evidence has indicated alterations in FGFR2 as potential oncogenic drivers in patients with various cancers.However,the role of these drivers in GIST pathogenesis remains underexplored.CASE SUMMARY We retrospectively evaluated two patients with GIST,diagnosed between August 2021 and July 2022,harboring FGFR2 mutations through hybrid capture-based next-generation sequencing(NGS).We analyzed their clinicopathological characteristics,treatment response,and long-term follow-up data.Both patients,a 47-year-old man(case 1)and a 43-year-old woman(case 2),underwent successful surgical resection and received adjuvant imatinib therapy.They achieved sustained remission with a median follow-up of 28 months.Notably,the NGS revealed novel FGFR2 rearrangements,an FGFR2-CIT/intergenic-FGFR2 fusion in case 1 and FGFR2-CAMK2G/FGFR2-VCL fusions in case 2 without canonical KIT or PDGFRA mutations.Both patients exhibited a favorable response to standard imatinib treatment.CONCLUSION Our findings provided preliminary evidence that novel FGFR2 fusions might act as primary oncogenic drivers in a rare subset of KIT/PDGFRA wild-type GISTs.These cases highlight the importance for comprehensive genomic profiling and suggest that fibroblast growth factor receptor-targeted inhibitors could be a potential therapeutic strategy for advanced or imatinib-resistant diseases,warranting further investigation in larger cohorts.
文摘BACKGROUND For patients with advanced gastrointestinal stromal tumors(GISTs)carrying the ckit exon 11 mutation,imatinib(IM)at a standard dosage of 400 mg per day is the preferred first-line treatment.In cases where treatment with IM fails,there is an urgent need for a more precise assessment method to determine whether to switch therapies or escalate the IM dosage.This approach will enhance clinical decision-making and optimize patient outcomes.AIM To investigate IM plasma concentration’s role in second-line treatment decisions for c-kit 11-mutated advanced GISTs post-IM failure.METHODS Patients with advanced GIST harboring c-kit 11 mutation who experienced failure with IM 400 mg per day as first-line treatment at our hospital were retrospectively analyzed.Patients were categorized into a low plasma(LP)concentration group(LP group,<1100 ng/mL)and high plasma(HP)concentration group(HP group,≥1100 ng/mL).Each group was further subdivided into Group A(dose-escalation group)and Group B(drug-switch group).Baseline characteristics were compared and Kaplan-Meier curves were used to analyze the survival of patients.RESULTS Seventy-five patients were included in the analysis.For the LP group(n=28),Group A(n=14)had longer overall survival(OS)than Group B(n=14)(P=0.02).No differences were observed between the two subgroups in disease control rate(DCR),objective response rate,and progression-free survival(PFS)(P>0.05).For the HP group(n=47),Group B(n=18)had a higher DCR and longer PFS than Group A(n=29)(P=0.008 and P=0.03,respectively).No difference in OS was observed between the two subgroups(P>0.05).CONCLUSION Increasing IM dosage for c-kit 11-mutated advanced GISTs post-IM failure may prolong OS if plasma concentration is<1100 ng/mL.Switching tyrosine kinase inhibitors may improve DCR and PFS if≥1100 ng/mL.
文摘BACKGROUND Preoperative distinguishing between benign and malignant gastrointestinal stromal tumors(GISTs)poses a challenge.Ultrasound elastography has emerged as a promising diagnostic tool;however,further investigation is needed to assess its diagnostic accuracy in evaluating GISTs.AIM To evaluate the accuracy of ultrasound elastography for differentiating between benign and malignant GISTs.METHODS This prospective study included 110 patients with 103 histopathologically confirmed GISTs between January 2021 and December 2023.All tumors underwent conventional ultrasound examination,strain elastography(SE),and shearwave elastography(SWE)before surgical resection.The study evaluated elastographic parameters such as strain ratio,elastographic patterns,mean elastic modulus,and heterogeneity index.Diagnostic performance was evaluated using receiver operating characteristic curve analysis,with histopathological diagnosis as the reference standard.RESULTS Of the 103 GISTs,45(43.7%)were benign and 58(56.3%)were malignant based on modified National Institutes of Health criteria.Malignant GISTs exhibited significantly higher strain ratios(4.82±1.73 vs 2.31±0.89;P<0.001)and mean elastic modulus values(45.6±15.8 kPa vs 21.3±8.4 kPa;P<0.001)than benign tumors.The optimal cutoff values were 3.45 for the strain ratio(sensitivity:84.5%,specificity:86.7%)and 32.5 kPa for the mean elastic modulus(sensitivity:87.9%,specificity:88.9%).The areas under the curve were 0.892 and 0.918,respectively.Interobserver agreement was excellent for both SE[intraclass correlation coefficient(ICC)=0.88]and SWE(ICC range:0.85-0.93)measurements.CONCLUSION Ultrasound elastography shows high diagnostic accuracy in distinguishing between benign and malignant GISTs.Combining SE and SWE provides complementary parameters for preoperative risk stratification.
文摘Gastrointestinal stromal tumors(GISTs),the most prevalent mesenchymal tumors,often have poor outcomes due to high recurrence rates.However,the specific risk factors for GISTs,particularly those concerning the innate immune-inflammatory response,remain poorly understood.This editorial highlights key prognostic factors that impact GIST progression and prognosis,while discussing the findings of a recent study that investigated the prognostic value of systemic inflammatory markers:systemic immune-inflammation index,neutrophil/lym-phocyte ratio,platelet/lymphocyte ratio,and monocyte/lymphocyte ratio,on recurrence-free survival in GIST patients.This editorial examines strategies to enhance the clinical applicability of the nomogram developed in the study,ensuring its effectiveness for robust implementation.Future directions outlined in the editorial stress the importance of integrating molecular insights,including KIT and PDGFRA mutations,tumor staging,and mitotic rates to refine predictive models.The editorial also underscores the value of multi-center studies to enhance the generalizability and clinical relevance of these approaches.By bridging inflammatory biomarkers with genetic and clinicopathologic factors,a more comprehensive understanding of GIST pathophysiology can be developed,paving the way for improved management strategies and patient outcomes.This perspective serves as a call to action for continued research into the interplay between genetic mutations,inflammatory marker modulation,and GIST progression,aiming to expand the scope of personalized oncology through a deeper understanding of GIST progression.
基金Supported by Beijing Hospitals Authority Ascent Plan,No.20191103Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support,No.ZYLX201803+1 种基金Beijing Natural Science Foundation,No.Z180001 and No.Z200015PKU-Baidu Fund,No.2020BD027.
文摘BACKGROUND The use of endoscopic surgery for treating gastrointestinal stromal tumors(GISTs)between 2 and 5 cm remains controversial considering the potential risk of metastasis and recurrence.Also,surgeons are facing great difficulties and challenges in assessing the malignant potential of 2-5 cm gastric GISTs.AIM To develop and evaluate computerized tomography(CT)-based radiomics for predicting the malignant potential of primary 2-5 cm gastric GISTs.METHODS A total of 103 patients with pathologically confirmed gastric GISTs between 2 and 5 cm were enrolled.The malignant potential was categorized into low grade and high grade according to postoperative pathology results.Preoperative CT images were reviewed by two radiologists.A radiological model was constructed by CT findings and clinical characteristics using logistic regression.Radiomic features were extracted from preoperative contrast-enhanced CT images in the arterial phase.The XGboost method was used to construct a radiomics model for the prediction of malignant potential.Nomogram was established by combing the radiomics score with CT findings.All of the models were developed in a training group(n=69)and evaluated in a test group(n=34).RESULTS The area under the curve(AUC)value of the radiological,radiomics,and nomogram models was 0.753(95%confidence interval[CI]:0.597-0.909),0.919(95%CI:0.828-1.000),and 0.916(95%CI:0.801-1.000)in the training group vs 0.642(95%CI:0.379-0.870),0.881(95%CI:0.772-0.990),and 0.894(95%CI:0.773-1.000)in the test group,respectively.The AUC of the nomogram model was significantly larger than that of the radiological model in both the training group(Z=2.795,P=0.0052)and test group(Z=2.785,P=0.0054).The decision curve of analysis showed that the nomogram model produced increased benefit across the entire risk threshold range.CONCLUSION Radiomics may be an effective tool to predict the malignant potential of 2-5 cm gastric GISTs and assist preoperative clinical decision making.
文摘Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are driven by mutations commonly found in the KIT gene and less commonly in the platelet-derived growth factor receptor alpha gene,BRAF gene and succinate dehydrogenase gene. GISTs behave in a spectrum of malignant potential,and both the tumor size and mitotic index are the most commonly used prognostic criteria. Whilst surgical resection can offer the best cure,targeted therapy in the form of tyrosine kinase inhibitors(TKIs) has revolutionized the management options. As the first-line TKI,imatinib offers treatment for advanced and metastatic GISTs,adjuvant therapy in high-risk GISTs and as a neoadjuvant agent to downsize large tumors prior to resection. The emergence of drug resistance has altered some treatment options,including prolonging the first-line TKI from 1 to 3 years,increasing the dose of TKI or switching to second-line TKI. Other newer TKIs,such as sunitinib and regorafenib,may offer some treatment options for imatinib-resistant GISTs. New molecular targeted therapies are being evaluated,such as inhibitors of BRAF,heat shock protein 90,glutamine and mitogenactivated protein kinase signaling,as well as inhibitors of apoptosis proteins antagonist and even immunotherapy. This editorial review summarizes the recent research trials and potential treatment targets that may influence our future patient-specific management of GISTs. The current guidelines in GIST management from Europe,North America and Asia are highlighted.
