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Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement.

NONO-TFE3 基因融合的Xp11.2易位性肾细胞癌:形态、预后和识别TFE3基因重排潜在的陷阱

Xia QY,Wang Z,Chen N,Gan HL,Teng XD,Shi SS,Wang X,Wei X,Ye SB,Li R,Ma HH,Lu ZF,Zhou XJ,Rao Q
阅读:1680 Modern PathologyMar 2017; 30 (3): 316 - 469:416-426 

Abstract

Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the TFE3 gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with NONO-TFE3 have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34βE12 or CD117. NONO-TFE3 fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence in situ hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the NONO-TFE3 fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10-102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding NONO-TFE3 renal cell carcinoma.

摘要

Xp11易位性肾细胞癌的特征是包含TFE3基因与其他不同基因的易位。不同基因融合的肿瘤可能有不同的临床病理表现。目前,仅有不到10NONO-TFE3基因融合的肾细胞癌被描述。这里,我们报道了8例这种罕见肿瘤的临床病理、免疫组化和分子分析。我们的病例男女比为1:1,中位年龄30岁。肿瘤最显著的特点是具有腺状/管状或乳头状结构,内衬中小的立方状至高柱状细胞,细胞边界不清,具有大量的透明或丰富嗜酸性的胞浆。细胞核朝向腔面,圆形一致,呈现出分泌性子宫内膜的核下空泡状的外观。独特的腺状/管状或乳头状结构,常常伴随着片状上皮细胞,呈现出双相模式。免疫组化:8个病例TFE3CD10RCCPAX-8呈现中等的(2+)或强的(3+)阳性染色,而CK7Cathepsin KMelan-AHMB45Ksp-cadherinVimentinCA934βE12 CD117免疫染色阴性。RT-PCR方法识别出6个病例存在NONO-TFE3基因融合。所有8个病例呈现出难以判断的接近2个信号直径的分离信号,有时有假阴性结果。此外,我们开发了荧光原位杂交(FISH)检测作为对 NONO-TFE3融合基因检测的辅助诊断工具,并用该方法识别出所有8例病例的融合基因。对其中的7个患者进行了长期随访(10-102个月),7例患者均存活,手术切除后没有疾病复发或疾病进展的证据。这篇报告增加了NONO-TFE3肾细胞癌的已知数据。


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