Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-12

AUTHORS

Maria Del Carmen Rodriguez Pena, Aline C. Tregnago, Marie-Lisa Eich, Simeon Springer, Yuxuan Wang, Diana Taheri, Dilek Ertoy, Kazutoshi Fujita, Stephania M. Bezerra, Isabela W. Cunha, Maria Rosaria Raspollini, Lijia Yu, Trinity J. Bivalacqua, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, George J. Netto

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. More... »

PAGES

761-767

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00428-017-2164-5

DOI

http://dx.doi.org/10.1007/s00428-017-2164-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085935593

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28597078


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00428-017-2164-5'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00428-017-2164-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00428-017-2164-5'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00428-017-2164-5'


 

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315 https://www.grid.ac/institutes/grid.413320.7 schema:alternateName AC Camargo Hospital
316 schema:name Department of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil
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318 https://www.grid.ac/institutes/grid.469474.c schema:alternateName Johns Hopkins Medicine
319 schema:name The Ludwig Center and Howard Hughes Medical Institute at the Sidney Kimmel Comprehensive Cancer Center, 21231, Baltimore, MD, USA
320 rdf:type schema:Organization
321 https://www.grid.ac/institutes/grid.8404.8 schema:alternateName University of Florence
322 schema:name Department of Pathology, University of Florence, Florence, Italy
323 rdf:type schema:Organization
 




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