Wang Xiao-Tong, Xia Qiu-Yuan, Ni Hao, Ye Sheng-Bing, Li Rui, Wang Xuan, Shi Shan-Shan, Zhou Xiao-Jun, Rao Qiu
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical Medical College, Nanjing Medical University, Nanjing, Jiangsu, China.
Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China.
Hum Pathol. 2017 May;63:190-200. doi: 10.1016/j.humpath.2017.02.022. Epub 2017 Mar 14.
Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor. Of note, the appearance of the gene fusion does not necessarily mean that it is renal cell carcinoma. The corresponding mesenchymal neoplasms, including Xp11 neoplasm with melanocytic differentiation, TFE3 rearrangement-associated perivascular epithelioid cell tumor (PEComa) and melanotic Xp11 translocation renal cancer, can also harbor the identical gene fusion. However, the differences between Xp11 translocation RCC and the corresponding mesenchymal neoplasm have only recently been described. Herein, we examined 5 additional cases of SFPQ-TFE3 RCCs using clinicopathologic, immunohistochemical, and molecular analyses. One tumor had the typical morphologic features of SFPQ-TFE3 RCC, whereas other 3 cases demonstrated the unusual morphologic features associated with pseudorosettes formation or clusters of smaller cells, mimicking TFEB RCC. The remaining one showed branching tubules and papillary structure composed of clear and eosinophilic tumor cells. Immunohistochemically, all 5 cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, PAX-8 and CD10, whereas no cases demonstrated TFEB, Cathepsin K, CA-IX, CK7, Melan-A, or HMB-45 expression. Genetically, the fusion transcripts were identified in 3 cases by reverse-transcription polymerase chain reaction (RT-PCR). On the basis of fluorescence in situ hybridization (FISH) analysis, all the cases were detected with SFPQ-TFE3 gene fusion. Clinical follow-up data were available for all the patients, and no one developed tumor recurrence, progression, or metastasis. We also review the differences between SFPQ-TFE3 RCC and the corresponding mesenchymal neoplasm despite the identical gene fusion. The presence of pseudorosettes also expands the known histological features of SFPQ-TFE3 RCC.
具有SFPQ/PSF-TFE3基因融合的Xp11易位性肾细胞癌（RCC）是一种罕见的上皮性肿瘤。值得注意的是，基因融合的出现并不一定意味着就是肾细胞癌。相应的间叶性肿瘤，包括具有黑素细胞分化的Xp11肿瘤、TFE3重排相关的血管周上皮样细胞瘤（PEComa）和黑素性Xp11易位性肾癌，也可存在相同的基因融合。然而，Xp11易位性RCC与相应间叶性肿瘤之间的差异直到最近才被描述。在此，我们通过临床病理、免疫组化和分子分析检查了另外5例SFPQ-TFE3 RCC病例。1例肿瘤具有SFPQ-TFE3 RCC的典型形态学特征，而其他3例表现出与假菊形团形成或较小细胞簇相关的不寻常形态学特征，类似TFEB RCC。其余1例显示由透明和嗜酸性肿瘤细胞组成的分支小管和乳头结构。免疫组化方面，所有5例TFE3、PAX-8和CD10均呈中度（2+）或强阳性（3+）染色，但均未显示TFEB、组织蛋白酶K、CA-IX、CK7、Melan-A或HMB-45表达。基因方面，3例通过逆转录聚合酶链反应（RT-PCR）鉴定出融合转录本。基于荧光原位杂交（FISH）分析，所有病例均检测到SFPQ-TFE3基因融合。所有患者均有临床随访数据，无一例发生肿瘤复发、进展或转移。我们还回顾了SFPQ-TFE3 RCC与相应间叶性肿瘤之间的差异，尽管存在相同的基因融合。假菊形团的存在也扩展了SFPQ-TFE3 RCC已知的组织学特征。
