AXIN2-associated adenomatous colorectal polyposis
J. coloproctol. (Rio J., Impr.)
;
41(4): 443-446, Out.-Dec. 2021. ilus
Article
in English
| LILACS
| ID: biblio-1356435
ABSTRACT
Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia hypodontia, scant body hair, and onychodystrophy. Discussion:
The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant. (AU)
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Adenomatous Polyposis Coli
/
Axin Protein
Type of study:
Prognostic study
/
Risk factors
Limits:
Humans
/
Male
Language:
English
Journal:
J. coloproctol. (Rio J., Impr.)
Journal subject:
Cirurgia
/
Doenas Retais
/
Doenas do Colo
/
Gastroenterology
/
Cirurgia
Year:
2021
Type:
Article
Affiliation country:
Brazil
/
Portugal
Institution/Affiliation country:
Hospital Sírio-Libanês/BR
/
Hospital Universitário de Brasília/BR
/
Instituto de Gestão Estratégica de Saúde do Distrito Federal/BR
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