Background: Identical translocations involving theTFE3gene and various partners have been found in both renal and soft tissue tumors, like alveolar soft part sarcoma (ASPSCR1), ossifying fibromyxoid tumor (PHF1), epithelioid hemangioendothelioma, and the clear cell stromal tumor of the lung (YAP1).Methods: Herein, we review in detail the clinicopathologic and molecular data of TFE3-rearranged renal tumors and propose our perspective, which may shed light on this emerging conundrum.Results: Among the kidney tumors carryingTFE3translocations, most are morphologically heterogeneous carcinomas labeling for the tubular marker PAX8. The others are mesenchymal neoplasms known as PEComas, characterized by epithelioid cells co-expressing smooth muscle actin, cathepsin-K, melanogenesis markers, and sometimes melanin pigment deposition. Over the past 30 years, numerousTFE3fusion partners have been identified, withASPL/ASPSCR1,PRCC,SFPQ/PSF, andNONObeing the most frequent.Conclusions: It is not well understood why similar gene fusions can give rise to renal tumors with different morpho-immunophenotypes, which may contribute to the recent disagreement regarding their classification. However, as these two entities, respectively, epithelial and mesenchymal in nature, are widely recognized by the pathology community and their clinicopathologic features well established, we overall believe it is still better to retain the names TFE3-rearranged renal cell carcinoma and TFE3-rearranged PEComa.
背景：涉及TFE3基因与不同伙伴基因的相同易位已在肾脏和软组织肿瘤中发现，例如肺泡软组织肉瘤（ASPSCR1）、骨化性纤维黏液样肿瘤（PHF1）、上皮样血管内皮瘤以及肺透明细胞间质瘤（YAP1）。 方法：本文详细回顾了TFE3重排肾肿瘤的临床病理及分子数据，并提出我们的观点，以期对这一新兴难题有所启示。 结果：在携带TFE3易位的肾肿瘤中，大多数为形态学异质性的癌，表达肾小管标志物PAX8。其余为间叶性肿瘤，即PEComa，其特征为上皮样细胞共表达平滑肌肌动蛋白、组织蛋白酶K、黑色素生成标志物，有时可见黑色素沉积。过去30年间，已发现众多TFE3融合伙伴基因，其中ASPL/ASPSCR1、PRCC、SFPQ/PSF和NONO最为常见。 结论：目前尚不完全清楚为何相似的基因融合会导致具有不同形态免疫表型的肾肿瘤，这可能是近期其分类存在争议的原因。然而，鉴于这两种本质分别为上皮性和间叶性的实体已被病理学界广泛认可，且其临床病理特征已较为明确，我们总体认为仍宜保留TFE3重排肾细胞癌和TFE3重排PEComa的名称。
肿瘤(癌症)患者之家