Argani Pedram, Ladanyi Marc
Department of Surgical Pathology, The Johns Hopkins Hospital, Baltimore, MD 21231-2410, USA.
Clin Lab Med. 2005 Jun;25(2):363-78. doi: 10.1016/j.cll.2005.01.008.
A significant proportion of RCCs of children and young adults bear specific chromosome translocations that result in gene fusions that involve members of the MiTF/TFE transcription factor family. These include the Xp11-translocation carcinomas, which bear TFE3 gene fusions, and the renal carcinomas with the t(6;11)(p21;q12), which bear an Alpha-TFEB gene fusion. Both types of translocation result in overexpression of the fusion gene products, such that nuclear labeling for TFE3 or TFEB by immunohistochemistry is a sensitive and specific marker of these respective tumor types. The clinical behavior of these neoplasms relative to conventional, adult-type renal carcinomas remains to be determined, and will be an important area of future investigation.
相当一部分儿童和年轻成人的肾细胞癌存在特定的染色体易位，这些易位导致基因融合，涉及MiTF/TFE转录因子家族成员。其中包括携带TFE3基因融合的Xp11易位癌，以及携带α-TFEB基因融合的t(6;11)(p21;q12)肾癌。这两种易位均导致融合基因产物的过表达，因此通过免疫组织化学对TFE3或TFEB进行核标记是这些相应肿瘤类型的敏感且特异的标志物。相对于传统的成人型肾癌，这些肿瘤的临床行为仍有待确定，并且将是未来研究的一个重要领域。
