AXIN2-Associated Adenomatous Colorectal Polyposis
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , |
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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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 |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632021000400443 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632021000400443 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1055/s-0041-1732328 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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) |
instacron_str |
SBCP |
institution |
SBCP |
reponame_str |
Journal of Coloproctology (Rio de Janeiro. Online) |
collection |
Journal of Coloproctology (Rio de Janeiro. Online) |
repository.name.fl_str_mv |
Journal of Coloproctology (Rio de Janeiro. Online) - Sociedade Brasileira de Coloproctologia (SBCP) |
repository.mail.fl_str_mv |
||sbcp@sbcp.org.br |
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1752126479270936576 |