Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma

Background: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd)...

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Autores: Sánchez, Ariadna, Hernandez, Goretti, Iglesias Coma, Mar, Moreira, Leticia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/53916
Acceso en línea:http://hdl.handle.net/10230/53916
http://dx.doi.org/10.3390/cancers13246378
Access Level:acceso abierto
Palabra clave:Lynch syndrome
Hereditary cancer
Small bowel adenocarcinoma
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spelling Identification of Lynch syndrome carriers among patients with small bowel adenocarcinomaSánchez, AriadnaHernandez, GorettiIglesias Coma, MarMoreira, LeticiaLynch syndromeHereditary cancerSmall bowel adenocarcinomaBackground: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas. Methods: A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors. Results: A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%. Conclusions: More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families.MDPI202220222021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/53916http://dx.doi.org/10.3390/cancers13246378reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésCancers (Basel). 2021 Dec 20;13(24):6378© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/539162026-06-12T07:21:37Z
dc.title.none.fl_str_mv Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
title Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
spellingShingle Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
Sánchez, Ariadna
Lynch syndrome
Hereditary cancer
Small bowel adenocarcinoma
title_short Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
title_full Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
title_fullStr Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
title_full_unstemmed Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
title_sort Identification of Lynch syndrome carriers among patients with small bowel adenocarcinoma
dc.creator.none.fl_str_mv Sánchez, Ariadna
Hernandez, Goretti
Iglesias Coma, Mar
Moreira, Leticia
author Sánchez, Ariadna
author_facet Sánchez, Ariadna
Hernandez, Goretti
Iglesias Coma, Mar
Moreira, Leticia
author_role author
author2 Hernandez, Goretti
Iglesias Coma, Mar
Moreira, Leticia
author2_role author
author
author
dc.subject.none.fl_str_mv Lynch syndrome
Hereditary cancer
Small bowel adenocarcinoma
topic Lynch syndrome
Hereditary cancer
Small bowel adenocarcinoma
description Background: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas. Methods: A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors. Results: A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%. Conclusions: More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families.
publishDate 2021
dc.date.none.fl_str_mv 2021
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/53916
http://dx.doi.org/10.3390/cancers13246378
url http://hdl.handle.net/10230/53916
http://dx.doi.org/10.3390/cancers13246378
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Cancers (Basel). 2021 Dec 20;13(24):6378
dc.rights.none.fl_str_mv https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
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