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Virchows Arch. 2017 Dec;471(6):761-767. doi: 10.1007/s00428-017-2164-5. Epub 2017 Jun 8.

Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder.

Author information

1
Department of Pathology, Johns Hopkins University, Baltimore, MD, 21287, USA.
2
The Ludwig Center and Howard Hughes Medical Institute at the Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, 21231, USA.
3
Department of Pathology, Hacettepe University, Ankara, Turkey.
4
Department of Pathology, Osaka University, Osaka, Japan.
5
Department of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil.
6
Department of Pathology, University of Florence, Florence, Italy.
7
Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, 35249, USA.
8
Department of Urology, Johns Hopkins University, Baltimore, MD, 21287, USA.
9
Department of Pathology, Johns Hopkins University, Baltimore, MD, 21287, USA. gnetto@uabmc.edu.
10
Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, 35249, USA. gnetto@uabmc.edu.
11
Department of Pathology, The University of Alabama at Birmingham, WP Building, Suite P230, 619 19th Street South, Birmingham, AL, 35249-7331, USA. gnetto@uabmc.edu.

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.

KEYWORDS:

Bladder neoplasm; Early detection; FGRF3; PIK3CA; PUNLMP; TERT; TP53

PMID:
28597078
DOI:
10.1007/s00428-017-2164-5
[Indexed for MEDLINE]

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