AXIN2-Associated Adenomatous Colorectal Polyposis

Detalhes bibliográficos
Autor(a) principal: Martins,Bruno Augusto Alves
Data de Publicação: 2021
Outros Autores: Falluh Filho,Reinaldo, Almeida,Romulo Medeiros de, Sandoval,Renata Lazari
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Journal of Coloproctology (Rio de Janeiro. Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632021000400443
Resumo: 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.
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spelling AXIN2-Associated Adenomatous Colorectal Polyposisadenomatous polyposis coliaxin proteinintestinal polyposisAbstract 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.Sociedade Brasileira de Coloproctologia2021-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632021000400443Journal of Coloproctology (Rio de Janeiro) v.41 n.4 2021reponame:Journal of Coloproctology (Rio de Janeiro. Online)instname:Sociedade Brasileira de Coloproctologia (SBCP)instacron:SBCP10.1055/s-0041-1732328info:eu-repo/semantics/openAccessMartins,Bruno Augusto AlvesFalluh Filho,ReinaldoAlmeida,Romulo Medeiros deSandoval,Renata Lazarieng2022-01-20T00:00:00Zoai:scielo:S2237-93632021000400443Revistahttp://www.scielo.br/scielo.php?script=sci_serial&pid=2237-9363&lng=pt&nrm=isohttps://old.scielo.br/oai/scielo-oai.php||sbcp@sbcp.org.br2317-64232237-9363opendoar:2022-01-20T00:00Journal of Coloproctology (Rio de Janeiro. Online) - Sociedade Brasileira de Coloproctologia (SBCP)false
dc.title.none.fl_str_mv AXIN2-Associated Adenomatous Colorectal Polyposis
title AXIN2-Associated Adenomatous Colorectal Polyposis
spellingShingle AXIN2-Associated Adenomatous Colorectal Polyposis
Martins,Bruno Augusto Alves
adenomatous polyposis coli
axin protein
intestinal polyposis
title_short AXIN2-Associated Adenomatous Colorectal Polyposis
title_full AXIN2-Associated Adenomatous Colorectal Polyposis
title_fullStr AXIN2-Associated Adenomatous Colorectal Polyposis
title_full_unstemmed AXIN2-Associated Adenomatous Colorectal Polyposis
title_sort AXIN2-Associated Adenomatous Colorectal Polyposis
author Martins,Bruno Augusto Alves
author_facet Martins,Bruno Augusto Alves
Falluh Filho,Reinaldo
Almeida,Romulo Medeiros de
Sandoval,Renata Lazari
author_role author
author2 Falluh Filho,Reinaldo
Almeida,Romulo Medeiros de
Sandoval,Renata Lazari
author2_role author
author
author
dc.contributor.author.fl_str_mv Martins,Bruno Augusto Alves
Falluh Filho,Reinaldo
Almeida,Romulo Medeiros de
Sandoval,Renata Lazari
dc.subject.por.fl_str_mv adenomatous polyposis coli
axin protein
intestinal polyposis
topic adenomatous polyposis coli
axin protein
intestinal polyposis
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632021000400443
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1055/s-0041-1732328
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Coloproctologia
publisher.none.fl_str_mv Sociedade Brasileira de Coloproctologia
dc.source.none.fl_str_mv Journal of Coloproctology (Rio de Janeiro) v.41 n.4 2021
reponame:Journal of Coloproctology (Rio de Janeiro. Online)
instname:Sociedade Brasileira de Coloproctologia (SBCP)
instacron:SBCP
instname_str Sociedade Brasileira de Coloproctologia (SBCP)
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reponame_str Journal of Coloproctology (Rio de Janeiro. Online)
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repository.name.fl_str_mv Journal of Coloproctology (Rio de Janeiro. Online) - Sociedade Brasileira de Coloproctologia (SBCP)
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