MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma
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DOI：
10.1053/j.semdp.2015.02.003
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发表时间：
2015-03-01
影响因子：
2.3
通讯作者：
Argani, Pedram
中科院分区：
文献类型：
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作者：
Argani, Pedram
MiT 转录因子亚家族包括 TFE3、TFEB、TFC 和 MiTF。肾细胞癌 (RCC) 中已发现涉及其中两个转录因子的基因融合。 Xp11易位肾细胞癌首次在2004年世界卫生组织肾肿瘤分类中得到正式认可，并含有涉及TFE3的基因融合。 t(6;11),RCC 具有特定的 Alpha-TFEB 基因融合，并首次在 2013 年国际泌尿病理学会 (ISUP) 温哥华肾肿瘤分类中得到正式认可。这两种易位 RCC 亚型有许多相似之处。尽管成人易位肾细胞癌的数量总体上可能超过儿童病例，但这两种情况最初都是在年轻患者中描述的，并且不成比例地涉及年轻患者。两者通常都有不寻常且独特的形态； Xp11 易位 RCC 经常具有具有乳头状结构和丰富砂粒体的透明细胞，而 t(6;11) RCC 经常具有双相外观，既有大上皮样细胞，又有小上皮样细胞和基底膜材料结节。然而，这两种肿瘤的形态可能重叠，其中一种会模仿另一种。与大多数其他 RCC 相比，这两种 RCC 均表达不足，例如细胞角蛋白和上皮膜抗原 (EMA)。与其他 RCC 不同，两者都频繁表达半胱氨酸蛋白酶组织蛋白酶 k，并经常表达 HMB45 和 Melan A 等黑素细胞标记物。最后，TFE3 和 TFEB 具有重叠的功能活性，因为这两种转录因子经常异二聚化并与相同的靶标结合。因此，根据临床、形态学、免疫组织化学和遗传相似性，2013年ISUP温哥华肾肿瘤分类将这两种肿瘤归为“MiT家族易位肾细胞癌”标题下。这篇综述总结了我们目前对这些最近描述的 RCC 的了解。 (C) 2015 Elsevier Inc. 保留所有权利。
The MiT subfamily of transcription factors includes TFE3, TFEB, TFC, and MiTF. Gene fusions involving two of these transcription factors have been identified in renal cell carcinoma (RCC). The Xp11 translocation RCCs were first officially recognized in the 2004 WHO renal tumor classification, and harbor gene fusions involving TFE3. The t(6;11),RCCs harbor a specific Alpha-TFEB gene fusion and were first officially recognized in the 2013 International Society of Urologic Pathology (ISUP) Vancouver classification of renal neoplasia. These two subtypes of translocation RCC have many similarities. Both were initially described in and disproportionately involve young patients, though adult translocation RCC may overall outnumber pediatric cases. Both often have unusual and distinctive morphologies; the Xp11 translocation RCCs frequently have clear cells with papillary architecture and abundant psammomatous bodies, while the t(6;11) RCCs frequently have a biphasic appearance with both large and small epithelioid cells and nodules of basement membrane material. However, the morphology of these two neoplasms can overlap, with one mimicking the other. Both of these RCCs underexpress epithelial immunohistochemical markers like cytokeratin and epithelial membrane antigen (EMA) relative to most other RCCs. Unlike other RCCs, both frequently express the cysteine protease cathepsin k and often express melanocytic markers like HMB45 and Melan A. Finally, TFE3 and TFEB have overlapping functional activity as these two transcription factors frequently heterodimerize and bind to the same targets. Therefore, on the basis of clinical, morphologic, immunohistochemical, and genetic similarities, the 2013 ISUP Vancouver classification of renal neoplasia grouped these two neoplasms together under the heading of "MiT family translocation RCC." This review summarizes our current knowledge of these recently described RCCs. (C) 2015 Elsevier Inc. All rights reserved.