A tumor association to be aware: endometrial cancer and colon cancer in relation to Lynch syndrome.
Journal
BJR case reports
ISSN: 2055-7159
Titre abrégé: BJR Case Rep
Pays: England
ID NLM: 101684132
Informations de publication
Date de publication:
10 Mar 2022
10 Mar 2022
Historique:
received:
19
11
2021
revised:
22
12
2021
accepted:
24
12
2021
entrez:
30
9
2022
pubmed:
1
10
2022
medline:
1
10
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36177269
doi: 10.1259/bjrcr.20210230
pmc: PMC9499431
doi:
Types de publication
Case Reports
Langues
eng
Pagination
20210230Informations de copyright
© 2022 The Authors. Published by the British Institute of Radiology.
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