ArticleNeoplasia (New York, N.Y.)2013
Identification of molecular tumor markers in renal cell carcinomas with TFE3 protein expression by RNA sequencing.
Article in Neoplasia (New York, N.Y.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 4 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 4 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- TMED family genes and their roles in human diseases.International journal of medical sciences · 2023Pooled it
- Gender difference analysis of Xp11.2 translocation renal cell carcinomas's attack rate: a meta-analysis and systematic review.BMC urology · 2020Pooled it
- Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma: a systematic review and meta-analysis of observational studies.BMC urology · 2016Pooled it
- [WHO classification 2016 and first S3 guidelines on renal cell cancer: What is important for the practice?].Der Pathologe · 2016Guideline
- Factors affecting survival and prognosis in surgically treated patients with spinal metastases arising from renal cell carcinoma.BMC urology · 2023Article
- Chimeric RNAs Discovered by RNA Sequencing and Their Roles in Cancer and Rare Genetic Diseases.Genes · 2022Review
- The genomic landscape of pediatric renal cell carcinomas.iScience · 2022Article
- A review of neoplasms with MITF/MiT family translocations.Histology and histopathology · 2022Review
- TRIM63 is a sensitive and specific biomarker for MiT family aberration-associated renal cell carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms.The journal of pathology. Clinical research · 2021Article
- Sharing the initial experience of pan-cancer panel analysis in high-risk renal cell carcinoma in the Korean population.BMC urology · 2020Article
- [Characterization of different renal cell carcinoma entities].Der Urologe. Ausg. A · 2020Review
- Development and Validation of Nine-RNA Binding Protein Signature Predicting Overall Survival for Kidney Renal Clear Cell Carcinoma.Frontiers in genetics · 2020Article
- Article
- A Rare Partner of TFE3 in the Xp11 Translocation Renal Cell Carcinoma: Clinicopathological Analyses and Detection of MED15-TFE3 Fusion.BioMed research international · 2019Article
- A Review of Translocation T(6;11) Renal Cell Carcinoma Tumors in the Adult Patient.Current urology · 2017Review
- [The translocation carcinoma: A pediatric renal tumor also in adults].Der Pathologe · 2016Review
- Clear cell papillary renal cell carcinoma and renal angiomyoadenomatous tumor: two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma.The American journal of surgical pathology · 2015Article
- Functional characterization of BC039389-GATM and KLK4-KRSP1 chimeric read-through transcripts which are up-regulated in renal cell cancer.BMC genomics · 2015Article
- TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.International journal of clinical and experimental pathology · 2015Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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 chimera expression was significantly higher in nine TFE3 translocated and six TFE3-expressing/non-translocated RCCs than in 24 ccRCCs (P < .001) and 22 papillary RCCs (P < .05-.07). Immunohistochemical analysis of selected genes from the tRCC gene signature showed significantly higher eukaryotic translation elongation factor 1 alpha 2 (EEF1A2) and Contactin 3 (CNTN3) expression in 16 TFE3 translocated and six TFE3-expressing/non-translocated RCCs than in over 200 ccRCCs (P < .0001, both).
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