Cargando…

A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome

lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segreg...

Descripción completa

Detalles Bibliográficos
Autores principales: Onka, Behyamet, Mohamed, Daoud ali, Yehouenou, Romeo Thierry Tessi, Adeyemi, Boris, Traore, Wend-Yam Mohammed, Kevin arthur, Mbina Mbougou, Jerguigue, Hounayda, Latib, Rachida, Omor, Youssef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499431/
https://www.ncbi.nlm.nih.gov/pubmed/36177269
http://dx.doi.org/10.1259/bjrcr.20210230
_version_ 1784794991190605824
author Onka, Behyamet
Mohamed, Daoud ali
Yehouenou, Romeo Thierry Tessi
Adeyemi, Boris
Traore, Wend-Yam Mohammed
Kevin arthur, Mbina Mbougou
Jerguigue, Hounayda
Latib, Rachida
Omor, Youssef
author_facet Onka, Behyamet
Mohamed, Daoud ali
Yehouenou, Romeo Thierry Tessi
Adeyemi, Boris
Traore, Wend-Yam Mohammed
Kevin arthur, Mbina Mbougou
Jerguigue, Hounayda
Latib, Rachida
Omor, Youssef
author_sort Onka, Behyamet
collection PubMed
description lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient’s personal and family history meets the Amsterdam or Bethesda criteria. It is guided by immunohistochemistry (IHC) and/or molecular biology that show loss of expression of one or more proteins of the MMR system and microsatellite instability on tumor DNA. In case of positive IHC and/or molecular biology, the patient should be referred to an oncogenetic consultation for a definitive diagnosis. We present the case of a 49-year-old patient who presented an anamic syndrome in metrorrhagia. After a clinical, imaging, biological and anatomopathological examination, the diagnosis of LS was made.
format Online
Article
Text
id pubmed-9499431
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher The British Institute of Radiology.
record_format MEDLINE/PubMed
spelling pubmed-94994312022-09-28 A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome Onka, Behyamet Mohamed, Daoud ali Yehouenou, Romeo Thierry Tessi Adeyemi, Boris Traore, Wend-Yam Mohammed Kevin arthur, Mbina Mbougou Jerguigue, Hounayda Latib, Rachida Omor, Youssef BJR Case Rep Case Report lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient’s personal and family history meets the Amsterdam or Bethesda criteria. It is guided by immunohistochemistry (IHC) and/or molecular biology that show loss of expression of one or more proteins of the MMR system and microsatellite instability on tumor DNA. In case of positive IHC and/or molecular biology, the patient should be referred to an oncogenetic consultation for a definitive diagnosis. We present the case of a 49-year-old patient who presented an anamic syndrome in metrorrhagia. After a clinical, imaging, biological and anatomopathological examination, the diagnosis of LS was made. The British Institute of Radiology. 2022-01-12 /pmc/articles/PMC9499431/ /pubmed/36177269 http://dx.doi.org/10.1259/bjrcr.20210230 Text en © 2022 The Authors. Published by the British Institute of Radiology https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Onka, Behyamet
Mohamed, Daoud ali
Yehouenou, Romeo Thierry Tessi
Adeyemi, Boris
Traore, Wend-Yam Mohammed
Kevin arthur, Mbina Mbougou
Jerguigue, Hounayda
Latib, Rachida
Omor, Youssef
A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title_full A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title_fullStr A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title_full_unstemmed A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title_short A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome
title_sort tumor association to be aware: endometrial cancer and colon cancer in relation to lynch syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499431/
https://www.ncbi.nlm.nih.gov/pubmed/36177269
http://dx.doi.org/10.1259/bjrcr.20210230
work_keys_str_mv AT onkabehyamet atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT mohameddaoudali atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT yehouenouromeothierrytessi atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT adeyemiboris atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT traorewendyammohammed atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT kevinarthurmbinambougou atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT jerguiguehounayda atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT latibrachida atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT omoryoussef atumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT onkabehyamet tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT mohameddaoudali tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT yehouenouromeothierrytessi tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT adeyemiboris tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT traorewendyammohammed tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT kevinarthurmbinambougou tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT jerguiguehounayda tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT latibrachida tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome
AT omoryoussef tumorassociationtobeawareendometrialcancerandcoloncancerinrelationtolynchsyndrome