肾脏双相型乳头状肾细胞癌的临床病理及分子学特征

Clinicopathological and molecular characteristics of biphasic papillary renal cell carcinoma of the kidney

目的 探讨肾脏双相型乳头状肾细胞癌(biphasic papillary renal cell carcinoma,BPRCC)的临床病理、免疫表型及分子遗传学特点。方法 收集6例BPRCC的临床资料,行组织形态学观察和免疫组化染色,并应用FISH检测7、17号和Y染色体异常。结果 6例患者中男性4例,女性2例,发病年龄32~67岁。4例为体检发现(7天~1年),2例分别因腰痛和血尿就诊。眼观:瘤体直径1.4~6.5 cm,平均3.0 cm,结节状,切面灰白、灰黄色,质软,边界清楚。镜检:瘤组织边界清楚,均可见大小不等的两种瘤细胞,呈肾小球样、腺泡状、微结节状、实性片状或紧密狭长的小管状排列,1例边缘合并小片状典型Ⅰ型乳头状肾癌结构。4例间质内可见灶状泡沫样巨噬细胞聚集。免疫表型:大、小两种瘤细胞vimentin(6/6)、EMA(6/6)、CK7(6/6)、P504s(6/6)均呈弥漫强阳性,Ki-67增殖指数1%~20%;Cyclin D1仅在较大的瘤细胞中表达,4例RCC仅在较小的细胞表达,而CD10、WT-1、CD117、CA9、p63、CK(34βE12)、GATA3和BRAF V600E均阴性。FISH检测显示:3例存在7号染色体三体、1例存在17号染色体三体,3例男性患者中有2例存在Y染色体缺失。6例患者随访时间3~66个月,均无复发和转移。结论 BPRCC是一种具有独特形态学和免疫表型特点的罕见乳头状肾细胞癌亚型,Cyclin D1和RCC在大小不等两种瘤细胞中的表达差异对该肿瘤的诊断具有重要提示作用。BPRCC预后良好,罕见复发、转移。

Purpose To explore the clinicopathological,immunophenotypic and molecular genetic characteristics of biphasic papillary renal cell carcinoma(BPRCC).Methods The clinical data were collected in 6 BPRCC patients for histomorphological observation and immunohistochemical staining analysis,and the abnormalities of chromosomes 7,17,and Y were detected by fluorescence in situ hybridization.Results Among the 6 cases,4 were males and 2 were females.The age of onset was 32-67 years.4 cases were found on physical examination(7 days to 1 year),and 2 cases were treated with low back pain and hematuria.Grossly,the diameter of the tumor was 1.4-6.5 cm(average 3.0 cm),the cut surface was grayish white or grayish yellow,soft in quality,nodular and clear in the boundary.Histologically,the tumor tissue had a clear boundary and both tumor cells of different sizes were observed,which were glomerular,acinar or solid sheet-like,compact and long narrow tubular arrangement,1 case of them had a small piece of typical type I papillary renal carcinoma with a marginal structure.Focal foamy macrophages were seen in the interstitium of 4 cases.Immunohistochemically,both large and small tumor cells were diffuse and strongly positive for vimentin(6/6),EMA(6/6),CK7(6/6) and P504 s(6/6),and the Ki-67 positive index was 1%-20%.Cyclin D1 was only expressed in the larger cells,3 cases of RCC were only expressed in the smaller cells,while CD10,WT-1,CD117,CA9,p63,CK(34βE12),GATA3 and BRAF V600 E were all negative.FISH showed that 3 cases had chromosome 7 trisomy,1 case had chromosome 17 trisomy,and 2 of 3 male patients had Y chromosome deletion.6 cases were followed up for 3 to 66 months,and there was no recurrence or metastasis.Conclusion BPRCC is a rare subtype of papillary renal cell carcinoma with unique morphological and immunophenotypic characteristics.The difference in the expression of Cyclin D1 and RCC in the two tumor cells of different sizes has an important role in the diagnosis of this tumor,and the prognosis of this tumor is good,with rare recurrence and metastasis.