卵巢衰老分为生理性与病理性两类,表现为卵巢储备功能下降、卵泡数量减少和激素水平紊乱,并与多种慢性疾病风险相关。研究发现,免疫失衡在卵巢衰老中扮演核心角色,尤其是辅助性T细胞17(helper T cell 17,Th17细胞)与调节性T细胞(regulat...卵巢衰老分为生理性与病理性两类,表现为卵巢储备功能下降、卵泡数量减少和激素水平紊乱,并与多种慢性疾病风险相关。研究发现,免疫失衡在卵巢衰老中扮演核心角色,尤其是辅助性T细胞17(helper T cell 17,Th17细胞)与调节性T细胞(regulatory T cell,Treg细胞)的比例失调。Th17/Treg平衡受炎症因子、核因子κB(nuclear factor-κB,NF-κB)通路及哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin,mTOR)通路的精密调控,其失衡会加剧卵巢局部炎症,加速卵泡耗竭。目前,针对Th17/Treg比例失衡的干预策略在自身免疫性疾病的治疗中已取得进展,为卵巢衰老的临床干预提供了新思路。综述Th17/Treg比例失衡在卵巢衰老中的核心作用,为探索延缓卵巢衰老的免疫治疗策略提供了理论依据。展开更多
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
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
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
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
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
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
文摘卵巢衰老分为生理性与病理性两类,表现为卵巢储备功能下降、卵泡数量减少和激素水平紊乱,并与多种慢性疾病风险相关。研究发现,免疫失衡在卵巢衰老中扮演核心角色,尤其是辅助性T细胞17(helper T cell 17,Th17细胞)与调节性T细胞(regulatory T cell,Treg细胞)的比例失调。Th17/Treg平衡受炎症因子、核因子κB(nuclear factor-κB,NF-κB)通路及哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin,mTOR)通路的精密调控,其失衡会加剧卵巢局部炎症,加速卵泡耗竭。目前,针对Th17/Treg比例失衡的干预策略在自身免疫性疾病的治疗中已取得进展,为卵巢衰老的临床干预提供了新思路。综述Th17/Treg比例失衡在卵巢衰老中的核心作用,为探索延缓卵巢衰老的免疫治疗策略提供了理论依据。
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.
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 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.
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.
