| Literature DB >> 28597078 |
Maria Del Carmen Rodriguez Pena1, Aline C Tregnago1, Marie-Lisa Eich1, Simeon Springer2, Yuxuan Wang2, Diana Taheri1, Dilek Ertoy3, Kazutoshi Fujita4, Stephania M Bezerra5, Isabela W Cunha5, Maria Rosaria Raspollini6, Lijia Yu7, Trinity J Bivalacqua8, Nickolas Papadopoulos2, Kenneth W Kinzler2, Bert Vogelstein2, George J Netto9,10,11.
Abstract
Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60-80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.Entities:
Keywords: Bladder neoplasm; Early detection; FGRF3; PIK3CA; PUNLMP; TERT; TP53
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Year: 2017 PMID： 28597078 DOI： 10.1007/s00428-017-2164-5
Source DB: PubMed Journal: Virchows Arch ISSN： 0945-6317 Impact factor: 4.064