Xu Zhou-Yi, Wang Jing-Ping, Zhang Yu, Wu Shi-Wu, Ma Li, Qin Yan-Zi, Wang Z Peter, Chai Da-Min, Tao Yi-Sheng
Department of Pathology, The First Affiliated Hospital of Bengbu Medical College, Bengbu Medical College Bengbu, Anhui, China.
Department of Biochemistry and Molecular Biology, School of Laboratory Medicine, Bengbu Medical College Anhui, Bengbu 233030, China.
Am J Transl Res. 2019 Jan 15;11(1):327-339. eCollection 2019.
Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion renal cell carcinoma (Xp11.2 translocation RCC) was first classified as a distinct type of renal tumor by the World Health Organization in 2004. However, its morphology and clinical manifestations often overlap with those of conventional RCCs. Moreover, a micropapillary pattern (MPP) comprising small papillary cell clusters surrounded by lacunar spaces has never been described in RCC. We compared the clinicopathological and prognostic characteristics of one patient with Xp11.2 translocation RCC exhibiting an MPP (TFE3-M) to those of four patients with conventional Xp11.2 translocation RCC (TFE3-N); all five tumors resembled conventional RCCs on gross pathology. All patients exhibited similar histologies, clinical manifestations, and prognoses, and all underwent radical nephrectomy. However, their characteristics differed significantly from those of other MPP-comprising neoplasms. Both tumor types were positive for TFE3 and vimentin; however, TFE3-M tumor cells expressed epithelial membrane antigen and human melanoma black-45 but not cluster of differentiation 10 (CD10), whereas the TFE3-N cells expressed P504S, CD10, and vimentin but not cytokeratin 7. Our RT-PCR analysis result showed that TFE3-N and TFE3-M tumor cells were identified expressing and fusion genes, respectively. These findings suggest that TFE3-M should be classified as a histological subtype of Xp11.2 translocation RCC, although its relationship with other MPP-exhibiting neoplasms remains unclear. The histological characteristics of Xp11.2 translocation RCCs depend on MiT family transcription factors and their gene fusion partners. Xp11.2 translocation RCC should be considered for malignancies presenting with a particular pattern; such malignancies can be identified reliably by their morphological and immunohistochemical profiles.
Xp11.2易位/转录因子E3（TFE3）基因融合性肾细胞癌（Xp11.2易位性肾细胞癌）于2004年首次被世界卫生组织归类为一种独特类型的肾肿瘤。然而，其形态和临床表现常与传统肾细胞癌重叠。此外，肾细胞癌中从未描述过由被腔隙围绕的小乳头细胞簇组成的微乳头模式（MPP）。我们将1例表现为MPP的Xp11.2易位性肾细胞癌（TFE3-M）患者的临床病理和预后特征与4例传统Xp11.2易位性肾细胞癌（TFE3-N）患者的进行了比较；所有5个肿瘤在大体病理上均类似传统肾细胞癌。所有患者均表现出相似的组织学、临床表现和预后，且均接受了根治性肾切除术。然而，它们的特征与其他包含MPP的肿瘤有显著差异。两种肿瘤类型的TFE3和波形蛋白均呈阳性；然而，TFE3-M肿瘤细胞表达上皮膜抗原和人黑素瘤黑色45，但不表达分化簇10（CD10），而TFE3-N细胞表达P504S、CD10和波形蛋白，但不表达细胞角蛋白7。我们的逆转录聚合酶链反应（RT-PCR）分析结果显示，TFE3-N和TFE3-M肿瘤细胞分别被鉴定为表达 和 融合基因。这些发现表明，TFE3-M应被归类为Xp11.2易位性肾细胞癌的一种组织学亚型，尽管其与其他表现为MPP的肿瘤的关系仍不清楚。Xp11.2易位性肾细胞癌的组织学特征取决于MiT家族转录因子及其基因融合伙伴。对于呈现特定模式的恶性肿瘤应考虑Xp11.2易位性肾细胞癌；此类恶性肿瘤可通过其形态和免疫组化特征可靠地识别。
