BACKGROUND The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics,increasingly supported by molecular genetic diagnostics.Data on neurotrophic tyrosine recept...BACKGROUND The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics,increasingly supported by molecular genetic diagnostics.Data on neurotrophic tyrosine receptor kinase(NTRK)gene fusionpositive uterine sarcoma,potentially aggressive and morphologically similar to fibrosarcoma,are limited due to its recent recognition.Pan-TRK immunohistochemistry(IHC)analysis serves as an effective screening tool with high sensitivity and specificity for NTRK-fusion malignancies.CASE SUMMARY We report a case of a malignant mesenchymal tumor originating from the uterine cervix,which was pan-TRK IHC-positive but lacked NTRK gene fusions,accompanied by a brief literature review.A 55-year-old woman presented to the emergency department with abdominal pain and distension,exhibiting significant ascites and multiple solid pelvic masses.Pelvic examination revealed a tumor encompassing the uterine cervix,extending to the vagina and uterine corpus.A punch biopsy of the cervix indicated NTRK sarcoma with positive immunochemical pan-TRK stain.However,subsequent next generation sequencing revealed no NTRK gene fusion,leading to a diagnosis of poorly differentiated,advanced-stage sarcoma.CONCLUSION The clinical significance of NTRK gene fusion lies in potential treatment with TRK inhibitors for positive sarcomas.Identifying such rare tumors is crucial due to the potential applicability of tropomyosin receptor kinase inhibitor treatment.展开更多
Background: The low-grade fibromyxoid sarcoma (LGFMS) is an exceptionally uncommon sarcoma that primarily manifests in the extremities or trunk of young adults, presenting as painless lesions. The histological feature...Background: The low-grade fibromyxoid sarcoma (LGFMS) is an exceptionally uncommon sarcoma that primarily manifests in the extremities or trunk of young adults, presenting as painless lesions. The histological features of this tumor are benign, but it exhibits an exceptionally high rate of late recurrence and a significant potential for metastasis. Imaging examinations serve as a crucial method for detecting LGFMS, while the definitive diagnosis relies on histopathological assessment. Currently, the primary treatment modality for this neoplasm is surgical resection. Early aggressive surgery with negative margins is a critical factor in mitigating the risk of tumor recurrence and metastasis. The present study presented a case of LGFMS located in the right thigh. The patient underwent a mass resection procedure following an MRI examination. During the telephone follow-up one year post-surgery, despite the absence of an imaging review, the surgical site demonstrated satisfactory recovery with no reported abnormal symptoms. Case Presentation: The patient, a 31-year-old male, presented to our hospital for evaluation of an asymptomatic mass in his right thigh that was incidentally discovered 13 years ago. The MRI showed a well-defined mass measuring 8.2 cm × 6.8 cm × 9.6 cm in the right thigh. The tumor signals exhibit a mixed pattern, characterized by predominantly isointense and hypointense signals on T1-weighted imaging (T1WI), a central area of hyperintensity on T2-weighted imaging (T2WI), and peripheral circular enhancement observed on contrast-enhanced scans. The patient underwent surgical resection. Microscopically, the mass was composed of intricately interwoven fibrous matrix and a distinct mucoid region. The tumor cells exhibited a distinctive arrangement in a swirling or wheel-like pattern, with minimal variation in their karyotypic characteristics. The immunohistochemical examination revealed diffuse and intense MUC4 positivity in the tumor cells. The diagnosis of LGFMS was confirmed by post-operative histopathological examination. Conclusions: The LGFMS is an exceptionally uncommon mesenchymal tumor renowned for its benign histological manifestations and malignant behavior. It is crucial to provide a comprehensive summary of the research findings and thoroughly review the existing literature pertaining to this rare disease.展开更多
BACKGROUND Enhanced recovery after surgery(ERAS)programs provide recommendations for an optimized management of patients undergoing surgery.An ERAS program tailored on surgery for retroperitoneal sarcomas(RPS)may impr...BACKGROUND Enhanced recovery after surgery(ERAS)programs provide recommendations for an optimized management of patients undergoing surgery.An ERAS program tailored on surgery for retroperitoneal sarcomas(RPS)may improve patient outcomes and it has still not been established.AIM To determine how an ERAS program tailored to RPS surgery can be agreed upon,structured,and implemented.METHODS Twenty-five candidate items from existing ERAS programs,potentially relevant for RPS surgery,were identified via literature review and expert input.These were included in a questionnaire refined through cognitive interviews and pilot testing.Expert sarcoma surgeons rated each item’s relevance and feasibility on a 6-point scale.The survey was recirculated after one year.Intra-observer reproducibility,inter-observer concordance,and agreement with the modal value of the most experienced participants were analyzed.RESULTS Thirteen sarcoma surgeons from 6 centers participated in the survey.Although surgeons agreed on several items,their overall concordance was low.After recirculating the survey,the intraobserver reproducibility was low.Interestingly,the median concordance with the reference increased for relevance and decreased for feasibility.CONCLUSION Despite interest in ERAS for RPS,surgeon concordance on item relevance and feasibility remains low,underscoring the need for collaborative efforts toward a standardized,consensus-based protocol.展开更多
A 63-year-old man was admitted to the hospital with a>1-year history of repeated acid reflux and belching and a 1-month history of an abdominal mass.On admission,the patient was in good condition,and his vital sign...A 63-year-old man was admitted to the hospital with a>1-year history of repeated acid reflux and belching and a 1-month history of an abdominal mass.On admission,the patient was in good condition,and his vital signs were stable.Laboratory examinations revealed no significant abnormalities.展开更多
Splenic histiocytic sarcoma(SHS)is a rare,aggressive hematological malignancy with unclear progression and management.Our case illustrates the progression and pathophysiological processes of SHS and provides key data ...Splenic histiocytic sarcoma(SHS)is a rare,aggressive hematological malignancy with unclear progression and management.Our case illustrates the progression and pathophysiological processes of SHS and provides key data for the diagnosis,treatment and management of SHS.A 60-year-old female with incidentally detected splenic mass(6.0 cm×5.7 cm)underwent splenectomy,confirmed as SHS in 2020.Post-op imatinib therapy was given.In 2022,hepatic metastases(2.4 cm×2.9 cm)with pancytopenia led to supportive care.Lesions enlarged to 4.3 cm×2.7 cm,leading to multi-organ failure and death at 33 months.The case was categorized into three distinct stages based on the pathophysiology of SHS:Early-stage splenic tumor growth,mid-stage liver metastasis with hematological abnormalities,and late-stage tumor infiltration leading to multiorgan failure.For SHS,this case highlights the pivotal role of early intervention and the value of personalized treatment strategies.展开更多
BACKGROUND Ulcerative colitis(UC)is a chronic inflammatory bowel disease treated with immunosuppressants to control inflammation.Drugs like azathioprine(AZA)and anti-tumor necrosis factor agents increase the risk of e...BACKGROUND Ulcerative colitis(UC)is a chronic inflammatory bowel disease treated with immunosuppressants to control inflammation.Drugs like azathioprine(AZA)and anti-tumor necrosis factor agents increase the risk of extraintestinal malignancies.However,no association has been established between these therapies and endometrial stromal sarcoma.This report presents a rare case of endometrial stromal sarcoma in a patient with UC undergoing immunosuppressive treatment and includes a literature review to explore any possible correlation between the disease,the therapies used,and the development of this rare tumor.CASE SUMMARY Female,49 years old,with UC pancolitis extension since 2017.She used aminosalicylates and AZA with non-response.She started infliximab and AZA combination therapy in 2020,with optimization in 2021 due to endoscopic activity.In the same year,the patient presented to the emergency room with ascitis and underwent diagnostic paracentesis,which showed serum-ascites albumin gradient<1.1 g/dL,absence of neoplastic cells,and abdominal and pelvic tomography reported a hypoechoic nodular lesion in the posterior wall of the uterus and elevated carbohydrate antigen 125.Given the suspicion of neoplasia,the suspension of immunosuppressive therapy was indicated.The patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy,and the pathological result reported low-grade endometrial sarcoma.It was decided to introduce vedolizumab for the management of UC;however,even after induction therapy,intense clinical and endoscopic disease activity was maintained,with total proctocolectomy being indicated due to clinical refractoriness and a history of neoplasia.CONCLUSION Patients with inflammatory bowel disease have a higher risk of cancer due to inflammation or treatment.Proper screening with multidisciplinary care can improve outcomes.展开更多
BACKGROUND Primary renal synovial sarcoma(PRSS)is extremely rare in clinical practice,and most cases are associated with SYT-SSX gene fusion.The PRSS with specific MDM2 gene amplification has not been reported so far....BACKGROUND Primary renal synovial sarcoma(PRSS)is extremely rare in clinical practice,and most cases are associated with SYT-SSX gene fusion.The PRSS with specific MDM2 gene amplification has not been reported so far.Therefore,there is no practical experience regarding the clinical,pathological features and diagnosis and treatment plans for patients of this type.This article reports a case of PRSS with specific MDM2 gene amplification.CASE SUMMARY The patient was preoperatively diagnosed with a malignant tumor of the left kidney(with a high probability of clear cell carcinoma).During the operation,a radical left nephrectomy was performed.The postoperative pathological examination report confirmed synovial sarcoma,and the gene test suggested PRSS with specific MDM2 gene amplification.Forty-eight days after the operation,the patient presented with"abdominal distension and diarrhea"and was found to have a huge metastatic tumor in the original left renal area.The patient died clinically 17 hours after admission due to"multiple organ failure".CONCLUSION PRSS with MDM2 gene amplification has a poorer prognosis,a higher degree of malignancy,and a faster progression,and clinicians need to be highly vigilant.展开更多
Myofibroblastic sarcoma(MS)is a rare malignant soft tissue tumor characterized by myofibroblasts.It most commonly arises in the head and neck region,especially the tongue,with rare occurrences in the limbs.MS exhibits...Myofibroblastic sarcoma(MS)is a rare malignant soft tissue tumor characterized by myofibroblasts.It most commonly arises in the head and neck region,especially the tongue,with rare occurrences in the limbs.MS exhibits varying histopathology,ranging from low-to high-grade,with diverse subtypes showing different clinical behaviors and prognoses.This article reports the first case of high-grade MS in the hand,adding to the limited documentation of this rare condition.Here,we present the case of a 30-year-old healthy female with a year-long history of progressive shortening,mobility loss,and weakness in the first finger of the left hand.Left-hand imaging revealed a lytic,cottony tumor involving the entire first metacarpal.Following surgical resection,which included metatarsal grafting and joint reconstruction,a diagnosis of high-grade MS was confirmed based on histological manifestations and immunohistochemical staining,which was further classified as grade 2 according to the French Federation of Cancer Centers Sarcoma Group system.Postoperative radiotherapy was administered and the patient experienced a successful recovery without graft osteonecrosis.The patient regained 90%mobility and strength,without shortening,after surgical resection and radiotherapy.Six months post-surgery,the patient reported full hand functionality.MS is a rare tumor that infrequently affects bones and is often misdiagnosed owing to its controversial characteristics.The initial treatment should focus on complete resection with negative margins,followed by reconstructive surgery to preserve function.Further case studies are needed to establish standardized surgical treatment protocols.展开更多
BACKGROUND Inferior vena cava(IVC)leiomyosarcomas are rare and aggressive tumors.Complete cure depends on achieving R0 resection,which often requires circumferential resection and reconstruction.Synthetic grafts have ...BACKGROUND Inferior vena cava(IVC)leiomyosarcomas are rare and aggressive tumors.Complete cure depends on achieving R0 resection,which often requires circumferential resection and reconstruction.Synthetic grafts have traditionally been used when venous continuity must be restored.However,the use of cadaveric IVC grafts for reconstruction has not been widely reported.CASE SUMMARY Herein,we present the case of a 64-year-old woman diagnosed with an intrahepatic IVC leiomyosarcoma with local invasion.The patient responded favorably to chemotherapy and subsequently underwent an en bloc right hepatectomy,retrohepatic IVC resection,and reconstruction with an interpositional cadaveric IVC graft.Serial imaging follow-ups until 2 years after the operation showed persistent patency of the graft and no graft-related complications.CONCLUSION Cadaveric IVC grafts are an alternative to synthetic grafts for reconstruction,with acceptable outcomes.Larger,long-term studies are necessary to validate these findings.展开更多
Alveolar soft tissue sarcoma is a rare malignant tumor of soft tissue,more common in young women,with deep soft tissues in the limbs and buttocks being the most prevalent sites.There are few reported cases in clinical...Alveolar soft tissue sarcoma is a rare malignant tumor of soft tissue,more common in young women,with deep soft tissues in the limbs and buttocks being the most prevalent sites.There are few reported cases in clinical practice.The clinical manifestations lack specificity and the imaging signs are diverse.This case presents ultrasound,MRI and PET/CT images of alveolar soft tissue sarcoma of the gluteus maximus muscle to enhance readers’understanding and awareness of the imaging signs of this rare disease in order to raise awareness of its diagnosis.The characteristics of this case are summarized and reported in combination with domestic literature.展开更多
Adamantinoma-like Ewing sarcoma(ALES)is a rare variant of Ewing sarcoma that predominantly occurs in the head and neck region,characterized by epithelial differentiation and overlapping morphology with other small rou...Adamantinoma-like Ewing sarcoma(ALES)is a rare variant of Ewing sarcoma that predominantly occurs in the head and neck region,characterized by epithelial differentiation and overlapping morphology with other small round cell tumors.We present three cases of head and neck ALES(two in the parotid gland and one in the nasal cavity)in patients aged 23-42 years.Histologically,the tumors exhibited a spectrum of features,including small round blue cells and basaloid squamous morphologies.Immunohistochemically,the tumor cells variably expressed CKpan,p63,CD99,NKX2.2,FLI1,CD56,and Syn.The Ki-67 proliferation index ranged widely from 15%to 90%.Notably,one case initially misdiagnosed as squamous cell carcinoma harbored a canonical EWSR1::FLI1 fusion.Crucially,we report the first case of ALES had a negative EWSR1 rearrangement but a somatic NF1 mutation,expanding the molecular spectrum of this entity.Our findings underscore the diagnostic challenge of ALES and highlight the necessity of comprehensive molecular profiling,including next-generation sequencing,for accurate diagnosis and the identification of potential therapeutic targets,particularly in genetically atypical cases.展开更多
Synovial sarcoma is a high-grade soft tissue malignancy characterized by a unique fusion gene known as SS18-SSX.The SS18-SSX fusion protein acts as an oncogenic driver of synovial sarcoma,and it has thus been commonly...Synovial sarcoma is a high-grade soft tissue malignancy characterized by a unique fusion gene known as SS18-SSX.The SS18-SSX fusion protein acts as an oncogenic driver of synovial sarcoma,and it has thus been commonly accepted that disruption of SS18-SSX function represents a therapeutic means of treating synovial sarcoma,but emerging evidence suggests that upon depletion of SS18-SSX,an anti-apoptotic signal surprisingly arises to protect synovial sarcoma cell survival.In this article,we discuss the controversial roles of SS18-SSX’s transcriptional activity in synovial sarcoma biology and outline a synergistic strategy for overcoming the resistance of synovial sarcoma cells to SS18-SSX targeted therapeutics.展开更多
BACKGROUND Kirsten rat sarcoma viral oncogene homolog(KRAS)is a commonly identified oncogenic driver in solid tumors,especially in non-small cell lung cancer.Until recently,KRAS was believed to be impossible to target...BACKGROUND Kirsten rat sarcoma viral oncogene homolog(KRAS)is a commonly identified oncogenic driver in solid tumors,especially in non-small cell lung cancer.Until recently,KRAS was believed to be impossible to target because it lacks adenosine triphosphate-binding domains or other regions that allow specic small-molecule inhibitors to act.In this report,we described using KRAS at glycine 12 to cysteine(G12C)inhibitors as posterior line therapy in a patient with relapsed metastatic lung adenocarcinoma carrying KRAS G12C mutation.CASE SUMMARY A 53-year-old Chinese man was treated with radical surgical resection for lung cancer in June 2014.Re-examination in June 2015 indicated postoperative rec-urrence with metastasis.The patient completed several courses of antitumor therapy,including pemetrexed and nedaplatin,bevacizumab with docetaxel and cisplatin,bevacizumab and pemetrexed,sintilimab and anlotinib,sintilimab and albumin-bound paclitaxel,and cadonilimab and docetaxel.In early May 2023,the patient developed a cough productive of bloody sputum and shortness of breath after exercise.The main adverse reactions associated with KRAS G12C inhibitor therapy were gastrointestinal reactions,which could be alleviated by daily oral ondansetron tablets.CONCLUSION After multiple-line treatment including chemotherapy,targeted therapy,and immunotherapy,disease control was achieved in a case of advanced pulmonary adenocarcinoma carrying the KRAS G12C mutation by mutation-specific inhibitor therapy,and the adverse reactions to the therapy were tolerable.展开更多
Soft tissue sarcomas(STS)are rare malignant tumors originating from mesoder-mal tissues with a poor prognosis,accounting for approximately 1%of all malig-nancies and comprising around 50 distinct subtypes.Conventional...Soft tissue sarcomas(STS)are rare malignant tumors originating from mesoder-mal tissues with a poor prognosis,accounting for approximately 1%of all malig-nancies and comprising around 50 distinct subtypes.Conventional imaging mo-dalities,such as computed tomography(CT)and magnetic resonance imaging(MRI),primarily provide anatomical information,whereas 18F-fluorodeoxyglucose positron emission tomography/CT(18F-FDG PET/CT)integrates functional metabolic and anatomical imaging,serving as a critical complementary tool in the diagnosis and management of STS.This article reviews recent advances in the application of 18F-FDG PET/CT for STS.The advantages of 18F-FDG PET/CT in STS include:(1)Early detection of metabolic activity changes in tumors,partic-ularly when morphological alterations are insignificant;(2)Effective differen-tiation between benign and malignant soft tissue tumors,as well as aiding in distinguishing high-grade from low-grade sarcomas;(3)Identification of occult metastatic lesions,improving staging accuracy,and facilitating restaging in cases of recurrence or metastasis;(4)Utilization of parameters such as maximum stan-dardized uptake value and metabolic tumor volume to assist in tumor grading and prognostic evaluation;and(5)Monitoring treatment response to guide adjust-ments in personalized therapeutic strategies.However,18F-FDG PET/CT has limitations in diagnosis of certain STS subtypes(e.g.,myxoid liposarcoma),detection and biopsy of metastatic lymph nodes,necessitating integration with clinical evaluation and other imaging techniques.18F-FDG PET/CT is poised to play an increasingly vital role in the precision diagnosis and treatment of STS.展开更多
Lipid nanoparticles have become attractive for its prominent properties recent years. In this paper, in vivo anti-tumor efficacy of nanostructured lipid carrier of dihydroartemisinin （DHA-NLC） were evaluated in sarc...Lipid nanoparticles have become attractive for its prominent properties recent years. In this paper, in vivo anti-tumor efficacy of nanostructured lipid carrier of dihydroartemisinin （DHA-NLC） were evaluated in sarcoma 180-bearing mice model through intraperitoneal （i.p.） administration. In vivo biodistribution was also investigated in Kunming mice bearing S180. Results demonstrated that the intraperitoneally injected DHA-NLC could significantly inhibit tumor growth at the dose levels of 20, 40 and 80 mg/kg, and their inhibition rates were 71.24%, 79.20% and 85.74%, respectively. The biodistribution of DHA after intraperitoneal injection of DHA-NLC in S180-bearing mice is remarkably different from the DHA solution. Therefore, DHA encapsulated in NLC does demonstrate superior anticancer effect to DHA suspension on S 180-bearing mice at the same dose and displayed a dose-dependent antitumor efficacy.展开更多
Objective: To investigate the feasibility and significance of detecting SYT-SSX fusion gene in paraffin-embedded tissues of synovial sarcoma (SS) by reverse-transcriptase polymerase chain reaction(RT-PCR) methods. Met...Objective: To investigate the feasibility and significance of detecting SYT-SSX fusion gene in paraffin-embedded tissues of synovial sarcoma (SS) by reverse-transcriptase polymerase chain reaction(RT-PCR) methods. Methods: Twenty cases of SS tumors from archival materials were collected and all samples were formalin-fixed and paraffin-embedded (FFPE). SYT-SSX fusion transcript was detected by RT-PCR. Home-keeping gene Porphobilinogen Deaminase (PBGD) was regarded as internal control.Results: PBGD mRNA was detected in all 20 tumor cases (100%). SYT-SSX fusion transcript was detected in 18 tumor cases (90%). In 18 SYT-SSX positive SS cases, there are 12 present SYT-SSX1 fusion transcript and 6 present SYT-SSX2 fusion transcript. SYT-SSX1 fusion transcript can be seen in 9 monophasic SS and 3 biphasic SS. In 6 SYT-SSX2 positive SS cases, 4 were monophasic SS and 2 were biphasic. Conclusion: Detection of SYT-SSX fusion transcripts in FFPE tissues for diagnosis of SS is feasible and sensitive. Subtypes of SYT-SSX fusion gene may provide prognosis information.展开更多
Myofibroblastic sarcoma, composed primarily of myofibroblast, is a rare malignant tumor. Low-grade myofibroblastic sarcoma （LGMS） has been defined properly as a distinct entity in the 2002 WHO classification of soft...Myofibroblastic sarcoma, composed primarily of myofibroblast, is a rare malignant tumor. Low-grade myofibroblastic sarcoma （LGMS） has been defined properly as a distinct entity in the 2002 WHO classification of soft tissue tumors. Primary sarcoma of the chest wall is also a rare disease. This article describes a case of locally recurrent LGMS of the chest wall.展开更多
Objective: Soft tissue sarcomas(STSs) are rare malignancies deriving from mesenchyme.In this study, we reported the epidemiology of STS in China using population-based cancer registry data.Methods: In 2017, qualified ...Objective: Soft tissue sarcomas(STSs) are rare malignancies deriving from mesenchyme.In this study, we reported the epidemiology of STS in China using population-based cancer registry data.Methods: In 2017, qualified data from 339 cancer registries were included in the national database.All STS cases were retrieved based on the morphological and topographical codes of International Classification of Diseases for Oncology, and were categorized into different histological subtypes and primary sites accordingly.Nationwide new STS cases were estimated using incidence rate of STS and the national population, and were reported for gastrointestinal stromal tumor(GIST) and STSs other than GIST separately by sex and region.Distribution of histological subtypes and primary sites of STS were calculated, as well as primary sites of GIST.Results: Approximately 39,900 new STS cases occurred nationwide in China in 2014, accounting for 1.05% of overall cancer incidence.The crude incidence rate was 2.91/100,000 and generally increased with age.An overall female predilection was found.GIST was the most common histological subtype, followed by nerve sheath tumor and malignant peripheral nerve sheath tumor,leiomyosarcoma, liposarcoma, and fibrosarcoma.About 67.5% of GIST occurred in stomach while 1.4% were recorded outside the gastrointestinal tract.Connective, subcutaneous and other soft tissues were the most common primary site, of which extremities were the major subsite.Conclusions: The burden of STS is not serious in China relatively.However, due to their histological and topographical complexity, STSs should not be unnoticed, and more basic and clinical studies should focus on STSs.展开更多
基金Supported by Grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute,funded by the Ministry of Health&Welfare,Republic of Korea,No.RS-2022-KH129889.
文摘BACKGROUND The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics,increasingly supported by molecular genetic diagnostics.Data on neurotrophic tyrosine receptor kinase(NTRK)gene fusionpositive uterine sarcoma,potentially aggressive and morphologically similar to fibrosarcoma,are limited due to its recent recognition.Pan-TRK immunohistochemistry(IHC)analysis serves as an effective screening tool with high sensitivity and specificity for NTRK-fusion malignancies.CASE SUMMARY We report a case of a malignant mesenchymal tumor originating from the uterine cervix,which was pan-TRK IHC-positive but lacked NTRK gene fusions,accompanied by a brief literature review.A 55-year-old woman presented to the emergency department with abdominal pain and distension,exhibiting significant ascites and multiple solid pelvic masses.Pelvic examination revealed a tumor encompassing the uterine cervix,extending to the vagina and uterine corpus.A punch biopsy of the cervix indicated NTRK sarcoma with positive immunochemical pan-TRK stain.However,subsequent next generation sequencing revealed no NTRK gene fusion,leading to a diagnosis of poorly differentiated,advanced-stage sarcoma.CONCLUSION The clinical significance of NTRK gene fusion lies in potential treatment with TRK inhibitors for positive sarcomas.Identifying such rare tumors is crucial due to the potential applicability of tropomyosin receptor kinase inhibitor treatment.
文摘Background: The low-grade fibromyxoid sarcoma (LGFMS) is an exceptionally uncommon sarcoma that primarily manifests in the extremities or trunk of young adults, presenting as painless lesions. The histological features of this tumor are benign, but it exhibits an exceptionally high rate of late recurrence and a significant potential for metastasis. Imaging examinations serve as a crucial method for detecting LGFMS, while the definitive diagnosis relies on histopathological assessment. Currently, the primary treatment modality for this neoplasm is surgical resection. Early aggressive surgery with negative margins is a critical factor in mitigating the risk of tumor recurrence and metastasis. The present study presented a case of LGFMS located in the right thigh. The patient underwent a mass resection procedure following an MRI examination. During the telephone follow-up one year post-surgery, despite the absence of an imaging review, the surgical site demonstrated satisfactory recovery with no reported abnormal symptoms. Case Presentation: The patient, a 31-year-old male, presented to our hospital for evaluation of an asymptomatic mass in his right thigh that was incidentally discovered 13 years ago. The MRI showed a well-defined mass measuring 8.2 cm × 6.8 cm × 9.6 cm in the right thigh. The tumor signals exhibit a mixed pattern, characterized by predominantly isointense and hypointense signals on T1-weighted imaging (T1WI), a central area of hyperintensity on T2-weighted imaging (T2WI), and peripheral circular enhancement observed on contrast-enhanced scans. The patient underwent surgical resection. Microscopically, the mass was composed of intricately interwoven fibrous matrix and a distinct mucoid region. The tumor cells exhibited a distinctive arrangement in a swirling or wheel-like pattern, with minimal variation in their karyotypic characteristics. The immunohistochemical examination revealed diffuse and intense MUC4 positivity in the tumor cells. The diagnosis of LGFMS was confirmed by post-operative histopathological examination. Conclusions: The LGFMS is an exceptionally uncommon mesenchymal tumor renowned for its benign histological manifestations and malignant behavior. It is crucial to provide a comprehensive summary of the research findings and thoroughly review the existing literature pertaining to this rare disease.
文摘BACKGROUND Enhanced recovery after surgery(ERAS)programs provide recommendations for an optimized management of patients undergoing surgery.An ERAS program tailored on surgery for retroperitoneal sarcomas(RPS)may improve patient outcomes and it has still not been established.AIM To determine how an ERAS program tailored to RPS surgery can be agreed upon,structured,and implemented.METHODS Twenty-five candidate items from existing ERAS programs,potentially relevant for RPS surgery,were identified via literature review and expert input.These were included in a questionnaire refined through cognitive interviews and pilot testing.Expert sarcoma surgeons rated each item’s relevance and feasibility on a 6-point scale.The survey was recirculated after one year.Intra-observer reproducibility,inter-observer concordance,and agreement with the modal value of the most experienced participants were analyzed.RESULTS Thirteen sarcoma surgeons from 6 centers participated in the survey.Although surgeons agreed on several items,their overall concordance was low.After recirculating the survey,the intraobserver reproducibility was low.Interestingly,the median concordance with the reference increased for relevance and decreased for feasibility.CONCLUSION Despite interest in ERAS for RPS,surgeon concordance on item relevance and feasibility remains low,underscoring the need for collaborative efforts toward a standardized,consensus-based protocol.
基金supported by the National Natural Science Foundation of China(Project No.82160348)the Yunnan Province Major Special Plan(No.202302AA310018-D-8)+1 种基金the Youth Talent Project of Yunnan Province's“Xingdian Talent Support Program”(No.XDYC-QNRC-2022-0608)the 2024 Senior Health Technology and Medical Discipline Leader of Yunnan Provincial Health Commission(No.D-2024056).
文摘A 63-year-old man was admitted to the hospital with a>1-year history of repeated acid reflux and belching and a 1-month history of an abdominal mass.On admission,the patient was in good condition,and his vital signs were stable.Laboratory examinations revealed no significant abnormalities.
基金Supported by the Program of General Hospital of Western Theater,No.2021-XZYG-C33.
文摘Splenic histiocytic sarcoma(SHS)is a rare,aggressive hematological malignancy with unclear progression and management.Our case illustrates the progression and pathophysiological processes of SHS and provides key data for the diagnosis,treatment and management of SHS.A 60-year-old female with incidentally detected splenic mass(6.0 cm×5.7 cm)underwent splenectomy,confirmed as SHS in 2020.Post-op imatinib therapy was given.In 2022,hepatic metastases(2.4 cm×2.9 cm)with pancytopenia led to supportive care.Lesions enlarged to 4.3 cm×2.7 cm,leading to multi-organ failure and death at 33 months.The case was categorized into three distinct stages based on the pathophysiology of SHS:Early-stage splenic tumor growth,mid-stage liver metastasis with hematological abnormalities,and late-stage tumor infiltration leading to multiorgan failure.For SHS,this case highlights the pivotal role of early intervention and the value of personalized treatment strategies.
文摘BACKGROUND Ulcerative colitis(UC)is a chronic inflammatory bowel disease treated with immunosuppressants to control inflammation.Drugs like azathioprine(AZA)and anti-tumor necrosis factor agents increase the risk of extraintestinal malignancies.However,no association has been established between these therapies and endometrial stromal sarcoma.This report presents a rare case of endometrial stromal sarcoma in a patient with UC undergoing immunosuppressive treatment and includes a literature review to explore any possible correlation between the disease,the therapies used,and the development of this rare tumor.CASE SUMMARY Female,49 years old,with UC pancolitis extension since 2017.She used aminosalicylates and AZA with non-response.She started infliximab and AZA combination therapy in 2020,with optimization in 2021 due to endoscopic activity.In the same year,the patient presented to the emergency room with ascitis and underwent diagnostic paracentesis,which showed serum-ascites albumin gradient<1.1 g/dL,absence of neoplastic cells,and abdominal and pelvic tomography reported a hypoechoic nodular lesion in the posterior wall of the uterus and elevated carbohydrate antigen 125.Given the suspicion of neoplasia,the suspension of immunosuppressive therapy was indicated.The patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy,and the pathological result reported low-grade endometrial sarcoma.It was decided to introduce vedolizumab for the management of UC;however,even after induction therapy,intense clinical and endoscopic disease activity was maintained,with total proctocolectomy being indicated due to clinical refractoriness and a history of neoplasia.CONCLUSION Patients with inflammatory bowel disease have a higher risk of cancer due to inflammation or treatment.Proper screening with multidisciplinary care can improve outcomes.
基金Supported by The Joint Special Project of Universities in Yunnan Province in 2022,No.2022-ES-530101-207The Hospital-level Scientific Research Project of The Fourth Affiliated Hospital of Dali University,No.2024YJ14.
文摘BACKGROUND Primary renal synovial sarcoma(PRSS)is extremely rare in clinical practice,and most cases are associated with SYT-SSX gene fusion.The PRSS with specific MDM2 gene amplification has not been reported so far.Therefore,there is no practical experience regarding the clinical,pathological features and diagnosis and treatment plans for patients of this type.This article reports a case of PRSS with specific MDM2 gene amplification.CASE SUMMARY The patient was preoperatively diagnosed with a malignant tumor of the left kidney(with a high probability of clear cell carcinoma).During the operation,a radical left nephrectomy was performed.The postoperative pathological examination report confirmed synovial sarcoma,and the gene test suggested PRSS with specific MDM2 gene amplification.Forty-eight days after the operation,the patient presented with"abdominal distension and diarrhea"and was found to have a huge metastatic tumor in the original left renal area.The patient died clinically 17 hours after admission due to"multiple organ failure".CONCLUSION PRSS with MDM2 gene amplification has a poorer prognosis,a higher degree of malignancy,and a faster progression,and clinicians need to be highly vigilant.
文摘Myofibroblastic sarcoma(MS)is a rare malignant soft tissue tumor characterized by myofibroblasts.It most commonly arises in the head and neck region,especially the tongue,with rare occurrences in the limbs.MS exhibits varying histopathology,ranging from low-to high-grade,with diverse subtypes showing different clinical behaviors and prognoses.This article reports the first case of high-grade MS in the hand,adding to the limited documentation of this rare condition.Here,we present the case of a 30-year-old healthy female with a year-long history of progressive shortening,mobility loss,and weakness in the first finger of the left hand.Left-hand imaging revealed a lytic,cottony tumor involving the entire first metacarpal.Following surgical resection,which included metatarsal grafting and joint reconstruction,a diagnosis of high-grade MS was confirmed based on histological manifestations and immunohistochemical staining,which was further classified as grade 2 according to the French Federation of Cancer Centers Sarcoma Group system.Postoperative radiotherapy was administered and the patient experienced a successful recovery without graft osteonecrosis.The patient regained 90%mobility and strength,without shortening,after surgical resection and radiotherapy.Six months post-surgery,the patient reported full hand functionality.MS is a rare tumor that infrequently affects bones and is often misdiagnosed owing to its controversial characteristics.The initial treatment should focus on complete resection with negative margins,followed by reconstructive surgery to preserve function.Further case studies are needed to establish standardized surgical treatment protocols.
文摘BACKGROUND Inferior vena cava(IVC)leiomyosarcomas are rare and aggressive tumors.Complete cure depends on achieving R0 resection,which often requires circumferential resection and reconstruction.Synthetic grafts have traditionally been used when venous continuity must be restored.However,the use of cadaveric IVC grafts for reconstruction has not been widely reported.CASE SUMMARY Herein,we present the case of a 64-year-old woman diagnosed with an intrahepatic IVC leiomyosarcoma with local invasion.The patient responded favorably to chemotherapy and subsequently underwent an en bloc right hepatectomy,retrohepatic IVC resection,and reconstruction with an interpositional cadaveric IVC graft.Serial imaging follow-ups until 2 years after the operation showed persistent patency of the graft and no graft-related complications.CONCLUSION Cadaveric IVC grafts are an alternative to synthetic grafts for reconstruction,with acceptable outcomes.Larger,long-term studies are necessary to validate these findings.
文摘Alveolar soft tissue sarcoma is a rare malignant tumor of soft tissue,more common in young women,with deep soft tissues in the limbs and buttocks being the most prevalent sites.There are few reported cases in clinical practice.The clinical manifestations lack specificity and the imaging signs are diverse.This case presents ultrasound,MRI and PET/CT images of alveolar soft tissue sarcoma of the gluteus maximus muscle to enhance readers’understanding and awareness of the imaging signs of this rare disease in order to raise awareness of its diagnosis.The characteristics of this case are summarized and reported in combination with domestic literature.
文摘Adamantinoma-like Ewing sarcoma(ALES)is a rare variant of Ewing sarcoma that predominantly occurs in the head and neck region,characterized by epithelial differentiation and overlapping morphology with other small round cell tumors.We present three cases of head and neck ALES(two in the parotid gland and one in the nasal cavity)in patients aged 23-42 years.Histologically,the tumors exhibited a spectrum of features,including small round blue cells and basaloid squamous morphologies.Immunohistochemically,the tumor cells variably expressed CKpan,p63,CD99,NKX2.2,FLI1,CD56,and Syn.The Ki-67 proliferation index ranged widely from 15%to 90%.Notably,one case initially misdiagnosed as squamous cell carcinoma harbored a canonical EWSR1::FLI1 fusion.Crucially,we report the first case of ALES had a negative EWSR1 rearrangement but a somatic NF1 mutation,expanding the molecular spectrum of this entity.Our findings underscore the diagnostic challenge of ALES and highlight the necessity of comprehensive molecular profiling,including next-generation sequencing,for accurate diagnosis and the identification of potential therapeutic targets,particularly in genetically atypical cases.
文摘Synovial sarcoma is a high-grade soft tissue malignancy characterized by a unique fusion gene known as SS18-SSX.The SS18-SSX fusion protein acts as an oncogenic driver of synovial sarcoma,and it has thus been commonly accepted that disruption of SS18-SSX function represents a therapeutic means of treating synovial sarcoma,but emerging evidence suggests that upon depletion of SS18-SSX,an anti-apoptotic signal surprisingly arises to protect synovial sarcoma cell survival.In this article,we discuss the controversial roles of SS18-SSX’s transcriptional activity in synovial sarcoma biology and outline a synergistic strategy for overcoming the resistance of synovial sarcoma cells to SS18-SSX targeted therapeutics.
基金Supported by National Natural Sciences Foundation of China,No.81803553.
文摘BACKGROUND Kirsten rat sarcoma viral oncogene homolog(KRAS)is a commonly identified oncogenic driver in solid tumors,especially in non-small cell lung cancer.Until recently,KRAS was believed to be impossible to target because it lacks adenosine triphosphate-binding domains or other regions that allow specic small-molecule inhibitors to act.In this report,we described using KRAS at glycine 12 to cysteine(G12C)inhibitors as posterior line therapy in a patient with relapsed metastatic lung adenocarcinoma carrying KRAS G12C mutation.CASE SUMMARY A 53-year-old Chinese man was treated with radical surgical resection for lung cancer in June 2014.Re-examination in June 2015 indicated postoperative rec-urrence with metastasis.The patient completed several courses of antitumor therapy,including pemetrexed and nedaplatin,bevacizumab with docetaxel and cisplatin,bevacizumab and pemetrexed,sintilimab and anlotinib,sintilimab and albumin-bound paclitaxel,and cadonilimab and docetaxel.In early May 2023,the patient developed a cough productive of bloody sputum and shortness of breath after exercise.The main adverse reactions associated with KRAS G12C inhibitor therapy were gastrointestinal reactions,which could be alleviated by daily oral ondansetron tablets.CONCLUSION After multiple-line treatment including chemotherapy,targeted therapy,and immunotherapy,disease control was achieved in a case of advanced pulmonary adenocarcinoma carrying the KRAS G12C mutation by mutation-specific inhibitor therapy,and the adverse reactions to the therapy were tolerable.
文摘Soft tissue sarcomas(STS)are rare malignant tumors originating from mesoder-mal tissues with a poor prognosis,accounting for approximately 1%of all malig-nancies and comprising around 50 distinct subtypes.Conventional imaging mo-dalities,such as computed tomography(CT)and magnetic resonance imaging(MRI),primarily provide anatomical information,whereas 18F-fluorodeoxyglucose positron emission tomography/CT(18F-FDG PET/CT)integrates functional metabolic and anatomical imaging,serving as a critical complementary tool in the diagnosis and management of STS.This article reviews recent advances in the application of 18F-FDG PET/CT for STS.The advantages of 18F-FDG PET/CT in STS include:(1)Early detection of metabolic activity changes in tumors,partic-ularly when morphological alterations are insignificant;(2)Effective differen-tiation between benign and malignant soft tissue tumors,as well as aiding in distinguishing high-grade from low-grade sarcomas;(3)Identification of occult metastatic lesions,improving staging accuracy,and facilitating restaging in cases of recurrence or metastasis;(4)Utilization of parameters such as maximum stan-dardized uptake value and metabolic tumor volume to assist in tumor grading and prognostic evaluation;and(5)Monitoring treatment response to guide adjust-ments in personalized therapeutic strategies.However,18F-FDG PET/CT has limitations in diagnosis of certain STS subtypes(e.g.,myxoid liposarcoma),detection and biopsy of metastatic lymph nodes,necessitating integration with clinical evaluation and other imaging techniques.18F-FDG PET/CT is poised to play an increasingly vital role in the precision diagnosis and treatment of STS.
基金Fundamental Research Funds of Lanzhou University for the Central Universities (Grant No. lzujbky-2012-85)the Lanzhou Science and Technology Bureau (Grant No. 2012-2-80)
文摘Lipid nanoparticles have become attractive for its prominent properties recent years. In this paper, in vivo anti-tumor efficacy of nanostructured lipid carrier of dihydroartemisinin （DHA-NLC） were evaluated in sarcoma 180-bearing mice model through intraperitoneal （i.p.） administration. In vivo biodistribution was also investigated in Kunming mice bearing S180. Results demonstrated that the intraperitoneally injected DHA-NLC could significantly inhibit tumor growth at the dose levels of 20, 40 and 80 mg/kg, and their inhibition rates were 71.24%, 79.20% and 85.74%, respectively. The biodistribution of DHA after intraperitoneal injection of DHA-NLC in S180-bearing mice is remarkably different from the DHA solution. Therefore, DHA encapsulated in NLC does demonstrate superior anticancer effect to DHA suspension on S 180-bearing mice at the same dose and displayed a dose-dependent antitumor efficacy.
文摘Objective: To investigate the feasibility and significance of detecting SYT-SSX fusion gene in paraffin-embedded tissues of synovial sarcoma (SS) by reverse-transcriptase polymerase chain reaction(RT-PCR) methods. Methods: Twenty cases of SS tumors from archival materials were collected and all samples were formalin-fixed and paraffin-embedded (FFPE). SYT-SSX fusion transcript was detected by RT-PCR. Home-keeping gene Porphobilinogen Deaminase (PBGD) was regarded as internal control.Results: PBGD mRNA was detected in all 20 tumor cases (100%). SYT-SSX fusion transcript was detected in 18 tumor cases (90%). In 18 SYT-SSX positive SS cases, there are 12 present SYT-SSX1 fusion transcript and 6 present SYT-SSX2 fusion transcript. SYT-SSX1 fusion transcript can be seen in 9 monophasic SS and 3 biphasic SS. In 6 SYT-SSX2 positive SS cases, 4 were monophasic SS and 2 were biphasic. Conclusion: Detection of SYT-SSX fusion transcripts in FFPE tissues for diagnosis of SS is feasible and sensitive. Subtypes of SYT-SSX fusion gene may provide prognosis information.
文摘Myofibroblastic sarcoma, composed primarily of myofibroblast, is a rare malignant tumor. Low-grade myofibroblastic sarcoma （LGMS） has been defined properly as a distinct entity in the 2002 WHO classification of soft tissue tumors. Primary sarcoma of the chest wall is also a rare disease. This article describes a case of locally recurrent LGMS of the chest wall.
基金supported by CAMS Innovation Fund for Medical Sciences (CIFMS) (Grant No.2016-12M-2-004)Ministry of Science and Technology (Grant No.2014FY121100)
文摘Objective: Soft tissue sarcomas(STSs) are rare malignancies deriving from mesenchyme.In this study, we reported the epidemiology of STS in China using population-based cancer registry data.Methods: In 2017, qualified data from 339 cancer registries were included in the national database.All STS cases were retrieved based on the morphological and topographical codes of International Classification of Diseases for Oncology, and were categorized into different histological subtypes and primary sites accordingly.Nationwide new STS cases were estimated using incidence rate of STS and the national population, and were reported for gastrointestinal stromal tumor(GIST) and STSs other than GIST separately by sex and region.Distribution of histological subtypes and primary sites of STS were calculated, as well as primary sites of GIST.Results: Approximately 39,900 new STS cases occurred nationwide in China in 2014, accounting for 1.05% of overall cancer incidence.The crude incidence rate was 2.91/100,000 and generally increased with age.An overall female predilection was found.GIST was the most common histological subtype, followed by nerve sheath tumor and malignant peripheral nerve sheath tumor,leiomyosarcoma, liposarcoma, and fibrosarcoma.About 67.5% of GIST occurred in stomach while 1.4% were recorded outside the gastrointestinal tract.Connective, subcutaneous and other soft tissues were the most common primary site, of which extremities were the major subsite.Conclusions: The burden of STS is not serious in China relatively.However, due to their histological and topographical complexity, STSs should not be unnoticed, and more basic and clinical studies should focus on STSs.
