首页|SMARCA4缺失性尿路上皮癌临床病理学分析

SMARCA4缺失性尿路上皮癌临床病理学分析

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目的 探讨SMARCA4缺失性尿路上皮癌(UC)临床病理特点及其预后.方法 对5例SMARCA4缺失的UC临床病理特点进行分析,包括文献报道的1例,并对其治疗、预后进行讨论.结果 患者平均年龄67岁,以男性为主,均有血尿症状.大体表现为单发、灰白色肿物,局灶出血,界欠清.H&E示瘤细胞低分化;部分表达GATA3、p63及CK7,SMARCA4缺失,Ki-67平均45%.根治性手术治疗后病理显示均为肌层浸润性UC,1例淋巴结转移、2例脉管侵犯.术后生存时间5天~5月,1例存活至今且未见转移(已随访6月),1例失访.此类肿瘤手术治疗效果有限,尚无系统性化疗方案,部分患者免疫检查点抑制剂治疗有效.结论 SMARCA4缺失的UC预后差,需及时诊断,可尝试免疫检查点抑制剂治疗.
SMARCA4-deficient urothelial carcinoma of the urinary tract:a clinicopathological analysis
Objective To study the clinical pathological features and prognosis of SMARCA4-deficient urothelial carcinoma(UC).Methods Five cases of SMARCA4-deficient UC were reviewed,including 1 case reported in literature.We analyzed the clinical pathological features,and discussed the treatment and prognosis of these patients.Results The mean age was 67-year-old,with the predominance of male.All patients had hematuria.The gross examination confirmed a solitary gray white tumor,with focal hemorrhage,and the boundary was not clear.H&E slides demonstrated that tumor cells were poorly differentiated.Tumor cells were focal positive for GATA3,p63 and CK7,with SMARCA4 deficient.The mean Ki-67 index was 45%.All patients applied radical surgery,and pathological reports showed 5 cases were muscle invasion UC.One case showed lymph node metastasis,and two cases showed lymphovascular metastasis.The survival time of patients after surgery varied for 5 days to 5 months,and one patient alive for 6 months with no metastasis detected,and one was lost to follow-up.Literatures showed limited surgical treatment efficacy,and no potent systemic chemotherapy were reported,but these diseases may show unexpected good responses for immune checkpoint inhibition.Conclusion It is important to diagnose SMARCA4-deficient UC in time.The prognosis is poor,but ICI probably effective.

SMARCA4SWI/SNFUrothelial carcinomaClinical pathological featuresTreatment

贾梅、谢建兰、张彦宁、郑媛媛、郑晓丹、王琳、张坤、陈光勇

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首都医科大学附属北京友谊医院病理科,北京 100050

SMARCA4 SWI/SNF 尿路上皮癌 临床病理特点 治疗

2024

诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
年,卷(期):2024.31(5)