Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia/Adenoma: Review of the Literature and Next-generation Sequencing Study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F20%3A10419762" target="_blank" >RIV/00216208:11140/20:10419762 - isvavai.cz</a>

Alternative codes found

RIV/00669806:_____/20:10419762

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_h4xdUa4F-" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_h4xdUa4F-</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/PAP.0000000000000268" target="_blank" >10.1097/PAP.0000000000000268</a>

Result language

angličtina

Original language name

Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia/Adenoma: Review of the Literature and Next-generation Sequencing Study

Original language description

The diagnosis of primary adenocarcinoma of the urinary bladder may be challenging in routine practice. These tumors may morphologically and immunohistochemically overlap with urachal adenocarcinoma and colorectal adenocarcinoma. Further, their genetic background is poorly understood. We systematically searched the PubMed database for results of complex genetic evaluation of primary bladder adenocarcinoma subtypes. Subsequently, we designed our own series of bladder lesions. We evaluated 36 cases: 16 primary enteric-type adenocarcinomas, 7 urachal enteric adenocarcinomas, 3 primary mucinous/colloid adenocarcinomas, and 10 intestinal-type metaplasia/villous adenoma. Detailed clinical data were collected, and all cases were examined using targeted next-generation sequencing. On the basis of the literature, the first mutated gene in these tumors was reported to beKRASin 11.3% of cases, followed byTERTpromoter mutations in 28.5%. In addition toKRASandTERT, other genes were also found to be frequently mutated in primary bladder adenocarcinoma, includingTP53,PIK3CA,CTNNB1,APC,FBXW7,IDH2, andRB1. In our series, the most frequent gene mutations in primary enteric-type adenocarcinomas were as follows:TP53(56%);BRCA2,KMT2B(both 33%);NOTCH2,KDR,ARID1B,POLE,PTEN,KRAS(all 28%); in urachal enteric adenocarcinoma they were as follows:TP53(86%);PTEN,NOTCH(both 43%); in primary mucinous/colloid adenocarcinomas they were as follows:KRAS,GRIN2A,AURKB(all 67%); and, in intestinal-type metaplasia/villous adenoma, they were as follows:APC,PRKDC(both 60%);ROS1,ATM,KMT2D(all 50%). No specific mutational pattern was identified using cluster analysis for any of the groups. Herein, we describe the pathologic features and immunohistochemical staining patterns traditionally used in the differential diagnoses of glandular lesions of the bladder in routine surgical pathology. We outline the mutational landscape of these lesions as an aggregate of published data with additional data from our cohort. Although diagnostically not discriminatory, we document that the most common genetic alterations shared between these glandular neoplasms includeTP53,APC(in the Wnt pathway), andKRAS(in the MAPK pathway) mutations.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Advances in Anatomic Pathology

ISSN

1072-4109

e-ISSN

—

Volume of the periodical

27

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

303-310

UT code for WoS article

000571089300004

EID of the result in the Scopus database

2-s2.0-85089435148