Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a micropapillary pattern: cases report and literature review.
Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a micropapillary pattern: cases report and literature review.
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Xp11.2 易位/TFE3 基因融合微乳头状肾细胞癌：病例报告和文献综述。
DOI：
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发表时间：
2019
影响因子：
2.2
通讯作者：
Yisheng Tao
中科院分区：
文献类型：
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作者：
Zhouyi Xu;Jing;Yu Zhang;Shiwu Wu;Li Ma;Yanzi Qin;Z. P. Wang;Da;Yisheng Tao
Xp11.2易位/转录因子E3(TFE3)基因融合肾细胞癌(Xp11.2易位RCC)于2004年首次被世界卫生组织列为肾脏肿瘤的一种独特类型。然而，它的形态和临床表现往往与传统的肾细胞癌重叠。此外，在肾癌中从未描述过由被腔隙包围的小乳头状细胞团组成的微乳头图案(MPP)。我们比较了1例表现为MPP的Xp11.2易位RCC患者(TFE3-M)和4例Xp11.2易位RCC患者(TFE3-N)的临床病理和预后特征；所有5种肿瘤在大体病理上都与传统RCC相似。所有患者都表现出相似的组织学、临床表现和预后，均接受了根治性肾切除术。然而，它们的特征与其他含有MPP的肿瘤显著不同。两种肿瘤细胞均表达TFE3和Vimentin，但TFE3-M肿瘤细胞表达上皮膜抗原和人黑色素瘤Black-45，但不表达分化簇10(CD10)，而TFE3-N肿瘤细胞表达P504S、CD10和Vimentin，但不表达细胞角蛋白7。RT-PCR分析结果表明，TFE3-N和TFE3-M肿瘤细胞分别表达ASPSCR1-TFE3和PRCC-TFE3融合基因。这些发现表明，TFE3-M应该被归类为Xp11.2易位肾细胞癌的组织学亚型，尽管它与其他表现MPP的肿瘤的关系尚不清楚。Xp11.2易位RCC的组织学特性取决于MIT家族转录因子及其基因融合伙伴。Xp11.2易位肾癌应该被认为是具有特殊模式的恶性肿瘤；这种恶性肿瘤可以通过其形态和免疫组织化学特征来可靠地识别。
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 ASPSCR1-TFE3 and PRCC-TFE3 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.