存在四个囊性肾肿块,它们带有RNAseq检测到的MED15::TFE3基因融合体,模仿低恶性潜能的多房性囊性肿瘤。收集所有病例的临床病理和结果数据。放射学上,3例诊断为复杂性囊性肿块,1例诊断为肾囊肿,手术前三年。肿瘤大小为1.8至14.5cm。严重的,所有肿块均为广泛囊性。微观上,胞质清晰或颗粒极小的细胞和核仁不明显的细胞核排列在囊肿隔片上。集中,小块形成的恶性细胞聚集物存在于隔膜之间,并与砂膜钙化相关.万一有,先前明显的囊壁破裂与反应性改变和充满纤维蛋白凝块的囊腔相关。其中两个肿瘤分期为T1a,一个是T1b,另一个是T2b。通过免疫组织化学,肿瘤的TFE3,MelanA,和P504S,顶端CD10,而CAIX和CK7阴性。对所有显示MED15::TFE3基因融合的病例进行RNA测序。部分肾切除术后11-49个月(平均29.5),患者还活着,没有疾病证据。迄今为止,文献中发表的15个MED15::TFE3融合肾细胞癌中的12个是囊性的,其中三个是广泛囊性的。因此,如果在肾脏标本中遇到多房性囊性肾肿瘤,转位肾细胞癌应作为囊性MED15包括在鉴别诊断中::TFE3tRCC具有不确定的预后,因此需要识别未来的特征。
Presented are four cystic renal masses which harbored a MED15::TFE3 gene fusion detected by RNAseq, mimicking multilocular cystic neoplasm of low malignant potential. Clinicopathologic and outcomes data were collected for all cases. Radiologically, three cases were diagnosed as complex cystic masses and one case as a renal cyst, three years prior to surgery. The tumors ranged in size from 1.8 to 14.5 cm. Grossly, all masses were extensively cystic. Microscopically, cells with a clear or minimally granular cytoplasm and nuclei with inconspicuous nucleoli lined the cysts\' septa. Focally, small mass-forming aggregates of malignant cells were present between septae and were associated with psammomatous calcifications. In case one, apparent prior cyst wall rupture was associated with reactive changes and cystic spaces filled with fibrin clots. Two of the tumors were staged as T1a, one as T1b, and the other as T2b. By immunohistochemistry, the tumors were positive for TFE3, MelanA, and P504S, with apical CD10 while CAIX and CK7 were negative. RNA sequencing was performed on all cases revealing a MED15::TFE3 gene fusion. The patients were alive and without evidence of disease 11-49 months (mean 29.5) after partial nephrectomy. To date, 12 of the 15 MED15::TFE3 fusion renal cell carcinomas published in the literature are cystic, with three being extensively cystic. Thus, if a multilocular cystic renal neoplasm is encountered in a kidney specimen, translocation renal cell carcinoma should be included in the differential diagnosis as cystic MED15::TFE3 tRCCs carry an uncertain prognosis making recognition for future characterization necessary.