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伴t(6;11)(p21;q12)染色体易位的肾细胞癌(RCC)是一种常发生于年轻患者的低级别RCC。肿瘤通常具有不同寻常的双相型形态学,其特征为大的上皮样细胞巢围绕着管腔内聚集的小细胞簇,且管腔周有基膜物质围绕。t(6;11)(p21;q12)易位使Alpha(MALAT1)基因与TFEB转录因子基因融合,导致TFEB表达上调,进而驱动黑素细胞标志物异常表达,其是该肿瘤的特征性标志。作者报道8例具有TFEB基因扩增的RCC(6例无TFEB
Renal cell carcinoma (RCC) with t (6; 11) (p21; q12) translocation is a low-grade RCC that often occurs in young patients. Tumors typically have an unusual biphasic morphology characterized by large epithelioid cell nests surrounding small clusters of cells that have gathered within the lumen and surrounding the basement membrane material surrounding the lumen. The translocation of t (6; 11) (p21; q12) causes the fusion of the Alpha (MALAT1) gene with the TFEB transcription factor, resulting in up-regulation of TFEB expression, which in turn drives the abnormal expression of melanocyte markers, a hallmark of this tumor. The authors reported 8 patients with RCC with TFEB gene amplification (6 without TFEB