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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00669806:_____/20:10419762

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Advances in Anatomic Pathology

ISSN

1072-4109

e-ISSN

—

Svazek periodika

27

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

303-310

Kód UT WoS článku

000571089300004

EID výsledku v databázi Scopus

2-s2.0-85089435148