原发性肾脏血管母细胞瘤的临床病理特征和分子遗传学改变  

Clinicopathological and molecular genetic features of primary renal haemangioblastoma

作　　者：类成勇[1] 王蔚[2] 张伟[2] 彭大云[2] LEI Cheng-yong;WANG Wei;ZHANG Wei;PENG Da-yun(Department of Urology, Nanfang Hospital, Guangzhou 510515, China;Department of Pathology, Guangzhou General Hospital of PLA , Guangzhou 510010, China)

机构地区：[1]南方医科大学南方医院泌尿外科,广州510515 [2]广州军区广州总医院病理科,广州510010

出　　处：《诊断病理学杂志》2018年第6期429-433,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨原发性肾脏血管母细胞瘤的临床特点、病理学特征及其分子遗传学改变。方法收集2例肾血管母细胞瘤患者的临床和病理资料,对其行组织形态学观察、免疫组织化学分析及VHL基因检测。结果例1,男性63岁,腰痛8年,CT检查发现左肾占位;例2,39岁男性,常规体检发现左肾占位。巨检肿瘤边界清楚,周围有厚的纤维性包膜。切面呈灰黄灰褐色、实性质中。镜下肿瘤由弥漫片状或小叶状分布的卵圆形或多角形细胞组成,被间质丰富的鹿角状或分枝状的毛细血管网分隔,部分血管腔扩张。瘤细胞胞质空亮或淡嗜酸性,可见胞质内脂质空泡。例1可见体积大、胞质丰富红染的横纹肌样细胞呈片状分布,并可见扩张的厚壁静脉血管。两例均未见坏死和核分裂象。免疫组化:肿瘤细胞vimentin、NSE、S-100蛋白和α-inhabin(+),CK、EMA灶性(+),CD10、SMA和HMB45等(-)。分子检测显示2例VHL基因3个外显子均未突变。例1行肿物切除术,例2行根治性肾切除术。术后分别随访12和37个月,均未见复发和转移。结论肾血管母细胞瘤为WHO(2016)泌尿系统和男性生殖系统肿瘤分类新增的肾间叶性肿瘤。该肿瘤罕见,组织学形态和免疫组化标记是诊断与鉴别诊断的依据,需要与肾细胞癌和上皮样型血管平滑肌脂肪瘤等鉴别。Objective To investigate the clinical and pathological characteristics,as well as the molecular genetic changes of primary renal haemangioblastoma. Methods The clinical and pathological data in 2 cases of primary renal haemangioblastoma were collected. The morphological features and immunophenotypes were observed by light microscopy and immunohistochemistry,and PCR sequencing analysis assessed the mutation of VHL gene. Results Case 1 was a 63-year-old male who was found a solid mass on the left kidney during a checkup for backache. Case 2 was a 39-year-old male who presented with a renal mass during a routine examination. Macroscopically,the tumors were well circumscribed and often encapsulated by thick fibrous capsule. The cut surface was grey,whitish yellow or brown. Microscopically,the tumors consisted of sheets and occasionally lobulated nodules of ovoid or polygonal cells with palely eosinophilic and clearly microvacuolated cytoplasm,separated by a prominent arborising vascular network. The blood vessels may be ecstatic.Larger thick-walled veins and rhabdoid cells with abundant eosinophilic cytoplasm could be seen in case 1. No necrosis and mitosis were found. Immunohistochemistry showed positive expression for vimentin,NSE,S-100 and α-inhibin,focally positive for CK and EMA,but negative for CD10,SMA and HMB45. Molecular detection revealed that 3 exons of the VHL gene were not mutated in the 2 cases. Case 1 underwent nephron sparing surgery and case 2 received radical nephrectomy.After 12 and 37 months of follow-up respectively,the two patients showed no evidence of recurrence and metastasis.Conclusion Renal haemangioblastoma is a new added tumor entity in the WHO Classification of Tumours of the Urinary System and Male Genital Organs（ 2016 edition） which is rare. The diagnosis and diffenertial diagnosis rely mainly on histopathological and immunohistochemical findings. The tumor should be distinguished from renal clear cell carcinoma and epithelioid angiomyolipoma.

关 键 词：血管母细胞瘤 VHL综合征 免疫组化 诊断 鉴别 

分 类 号：R737.11[医药卫生—肿瘤]