延胡索酸水合酶缺陷型肾细胞癌临床病理分析并文献复习  

Fumarate hydratase-deficient renal cell carcinoma:a clinicopathological analysis and review of literature

作　　者：吴敏 魏雪静[1] 柳玮华[1] 岳冰[1] 郑媛媛[1] 郑晓丹[1] 陈光勇[1] WU Min;WEI Xue-jing;LIU Wei-hua;YUE Bing;ZHENG Yuan-yuan;ZHENG Xiao-dan;CHEN Guang-yong(Department of Pathology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院病理科,北京100050

出　　处：《诊断病理学杂志》2023年第6期521-524,540,共5页Chinese Journal of Diagnostic Pathology

基　　金：国家重点研发计划“老年人多病共患临床大数据与生物样本库综合管理共享平台建设”(2020YFC2004800)项目资助。

摘　　要：目的探讨延胡索酸水合酶缺陷型肾细胞癌(FH-RCC)的临床病理特征。方法分析8例FH-RCC患者的临床资料、病理组织学特征、免疫组化表达及随访情况,并复习相关文献。结果男性3例,女性5例,年龄27~64岁,平均年龄38岁。大多无明显临床症状,有3例已出现远处转移。5例患者有子宫或皮肤平滑肌瘤切除史。大体检查肿瘤位于单侧或双侧,左肾为主,最大径为2.0~11.0 cm,切面呈囊实性或实性。镜下组织形态多样,以乳头状及管囊状结构为主,细胞异型性明显,可见嗜酸性大核仁。免疫组化显示FH阴性(6/8),2例灶状弱阳性;2SC阳性(8/8);TFE-3阴性(7/8),1例部分弱阳性。治疗以根治性肾切除为主,随访6~86个月,2例患者死亡,生存期分别为6个月、33个月。结论FH-RCC常具有侵袭性,易转移,预后较差。组织形态学多样,需与多种肾脏肿瘤鉴别,嗜酸性病毒包涵体样大核仁是其重要组织学特征,免疫组化染色FH阴性及2SC阳性联合检测有助于诊断。Objective To study the clinicopathological features of fumarate hydratase-deficient renal cell carcinoma(FH-dRCC).Methods The clinical manifestation,histopathological characteristics and immunohistochemistry and survival data of 8 patients with FH-RCC were analyzed along with a review of literatures.Results There were 3 males and 5 females in this study,whose age ranged from 27 years to 64 years(mean 38 years).Most of them showed no specific clinical symptoms,3 cases presented with distant metastases,and 5 patient had a history of uterine or cutaneous leiomyoma.Grossly,tumors were unilateral or bilateral,there was a predilection for the left kidney.They were solid and cystic or solid,measuring 2.0 cm to 11.0 cm in greatest diameter.Microscopically,there were multiple admixed morphological patterns,the most common patterns were papillary and tubulocystic.Tumor cells had marked cytological atypia,with the eosinophilic macronucleoli.Negative immunohistochemical staining for FH was detected in the tumor cells(6/8),two cases were focally weakly positive.2SC was positive(8/8).TFE-3 was negative(7/8),and one case demonstrated focally weak positive.The main treatment was radical nephrectomy in the patients.During 6 months to 86 months of follow-up,2 patients died with the survial time 6 months and 33 months after surgery,respectively.Conclusion FH-RCC is often aggressive,frequently metastasized to other anatomic sites,with a poor prognosis.The tumor has a mixed morphological patterns,and characteristic prominent eosinophilic CMV-like macronucleoli.It is necessary to differentiate from multiple renal tumors,with a combination of negative staining for FH and strongly positive staining for 2SC.

关 键 词：延胡索酸水合酶缺陷型肾细胞癌 病理组织学特征 鉴别诊断 

分 类 号：R737.11[医药卫生—肿瘤]