PMID: 24339735Dec 18, 2013Paper

Identification of molecular tumor markers in renal cell carcinomas with TFE3 protein expression by RNA sequencing

Neoplasia : an International Journal for Oncology Research
Dorothee PfluegerHolger Moch

Abstract

TFE3 translocation renal cell carcinoma (tRCC) is defined by chromosomal translocations involving the TFE3 transcription factor at chromosome Xp11.2. Genetically proven TFE3 tRCCs have a broad histologic spectrum with overlapping features to other renal tumor subtypes. In this study, we aimed for characterizing RCC with TFE3 protein expression. Using next-generation whole transcriptome sequencing (RNA-Seq) as a discovery tool, we analyzed fusion transcripts, gene expression profile, and somatic mutations in frozen tissue of one TFE3 tRCC. By applying a computational analysis developed to call chimeric RNA molecules from paired-end RNA-Seq data, we confirmed the known TFE3 translocation. Its fusion partner SFPQ has already been described as fusion partner in tRCCs. In addition, an RNA read-through chimera between TMED6 and COG8 as well as MET and KDR (VEGFR2) point mutations were identified. An EGFR mutation, but no chromosomal rearrangements, was identified in a control group of five clear cell RCCs (ccRCCs). The TFE3 tRCC could be clearly distinguished from the ccRCCs by RNA-Seq gene expression measurements using a previously reported tRCC gene signature. In validation experiments using reverse transcription-PCR, TMED6-COG8 ch...Continue Reading

Citations

Mar 15, 2016·Der Pathologe·E Bruder, H Moch
Jan 25, 2020·Der Urologe. Ausg. A·N J Rupp, H Moch
May 10, 2017·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jing MaMinzhi Yin
Nov 13, 2020·The Journal of Pathology. Clinical Research·Maren SchmiesterAnne Flörcken
Aug 26, 2020·Archives of Medical Research·Maria S Tretiakova
Apr 16, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Xiao-Ming WangRohit Mehra

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