具有血管母细胞瘤样特征及平滑肌瘤样间质肾细胞癌临床病理分析  

Renal cell carcinoma with hemangioblastoma-like features and leiomyomatous stroma: a clinicopathological analysis

作　　者：陈艳宇[1] 王爱武[1] 钟碧玲[1] 王贵明[1] 周扬帆[1] 李亦明[1] 龙中华 谭夕[1] 何柏浩 CHEN Yan-yu;WANG Ai-wu;ZHONG Bi-ing;WANG Gui-ming;ZHOU Yang-fan;LI Yi-ming;LONG Zhong-hua;TAN Xi;HE Bai-hao(Department of Pathology,Guangedong Second Prorincial General Hospital/Guangdong Provincial Emergency Hospial,Guangzhou 510317,China)

机构地区：[1]广东省第二人民医院/广东省应急医院病理科,广州510317

出　　处：《诊断病理学杂志》2020年第10期726-730,共5页Chinese Journal of Diagnostic Pathology

基　　金：广东省医学科研基金项目(A2019574)。

摘　　要：目的探讨具有血管母细胞瘤样特征及平滑肌瘤样间质肾细胞癌的临床病理学特征及其临床意义、诊断陷阱。方法分析1例罕见类型肾细胞癌的临床病理学特征、免疫组化、分子遗传学特征,并复习相关文献。结果患者女性,41岁,无特殊不适。CT:左肾中部肾实质内见一中等至稍高密度影,考虑血管平滑肌脂肪瘤可能性大。镜检:肿瘤主体(约占70%)呈血管母细胞瘤样特征,小部分区域(约占20%)为梭形平滑肌瘤样间质,其间混杂少量(约占10%)肿瘤组织似透明细胞乳头状肾细胞癌(CCP-RCC)。免疫组化:血管母细胞瘤样特征肿瘤组织呈vimentin、CK-pan、NSE、Inhibin A、S-100、CD10、CAIX、PAX8、TFE3(+),Cam5.2、CK7、34βE12、P504s、GATA3(-);CCP-RCC样肿瘤组织呈vimentin、CK/pan、CK7、PAX8、NSE、CD10、EMA、Cam5.2、TFE3(+),梭形平滑肌瘤样间质呈SMA、Desmin(+)。分子遗传学:荧光原位杂交(FISH)检测TFE3基因断裂重排阴性,二代测序未发现VHL、TCEB1、TSC1及TSC2基因突变。病理诊断:(左肾)具有血管母细胞瘤样特征及平滑肌瘤样间质的肾细胞癌。结论本例肾细胞癌的诊断富于挑战性,为首例同时具有血管母细胞瘤样特征、丰富平滑肌瘤样间质的肾细胞癌,正确认识、诊断这一亚型肾细胞癌对于指导临床治疗、预测患者预后具有现实意义。我们认为,诊断肾脏原发血管母细胞瘤应极为谨慎。Objective To investigate the clinicopathological characteristics of renal cell carcinoma with hemangioblastoma-like features and leiomyomatous stroma,its clinical significance and the pitfall of diagnosis.Methods The clinicopathological characteristics,immunohistochemical results,and molecular genetic characteristics of a rare type of renal cell carcinoma were analyzed,and related literature was reviewed.Results The patient was 41 years old female,who had no special symptoms.CT showed a medium to slightly high-density shadow in the parenchyma of the left kidney,with the possibility of angiomyolipoma.Histopathological examination demonstrated that most of the tumor(approximately 70%)in this case showed hemangioblastoma-like features,a small amount(approximately 10%)of the tumor showed the features of clear cell papillary renal cell carcinoma(CCP-RCC),and there was the leiomyoma-like stroma(approximately 20%)between them.Immunophentyping showed the hemangioblastoma-like component was positive for vimentin,CK-pan,NSE,inhibin A,S-100,CD10,CAIX,PAX8 and TFE3,but negative for Cam5.2,CK7,34βE12,P504 s and GATA3.CCP-RCC-like component was positive for vimentin,CK-pan,EMA,Cam5.2,NSE,CK7,PAX8,CD10,CAIX,TFE3,and the leiomyoma-like stroma was positive for SMA,desmin.Fluorescence in situ hybridization(FISH)showed that break-apart rearrangement of TFE3 gene detection was negative,and the next-generation sequencing found no mutations in VHL,TCEB1,TSC1,TSC2 genes.The pathological diagnosis of renal cell carcinoma with hemangioblastoma-like features and leiomyomatous stroma was made.Conclusion The case can be diagnostically challenging.To the best of our knowledge,this is the first description of such a pattern that shows the features of hemangioblastoma,as well as the leiomyoma-like stroma.Correct understanding and diagnosis is of practical significance to the clinicians and therapeutic implications.It is important to point out that the diagnosis of renal hemangioblastoma should be made with extremely caution.

关 键 词：肾细胞癌 血管母细胞瘤 透明细胞乳头状肾细胞癌 平滑肌瘤样间质 诊断 

分 类 号：R737.22[医药卫生—肿瘤]