CC BY-NC-ND 4.0 · Journal of Coloproctology 2021; 41(04): 443-446
DOI: 10.1055/s-0041-1732328
Case Report

AXIN2-Associated Adenomatous Colorectal Polyposis

1  Serviço de Coloproctologia, Hospital Universitário de Brasília, Brasília, DF, Brazil
2  Hospital Sírio-Libanês, Brasília, DF, Brazil
,
3  Unidade de Gastroenterologia, Instituto de Gestão Estratégica de Saúde do Distrito Federal (IGESDF), Brasília, DF, Brazil
,
1  Serviço de Coloproctologia, Hospital Universitário de Brasília, Brasília, DF, Brazil
2  Hospital Sírio-Libanês, Brasília, DF, Brazil
,
2  Hospital Sírio-Libanês, Brasília, DF, Brazil
› Author Affiliations
Funding Statement This research did not receive any specific grant from funding agencies in the public, commercial, or non-profit sectors.

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) and mutY 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.

Consent

Informed consent was obtained from the patient for publication of this case report and accompanying images. The present study was approved by the Institutional Ethics Committee.




Publication History

Received: 19 October 2020

Accepted: 22 March 2120

Publication Date:
13 August 2021 (online)

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