Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant.
Duodenal tumor
Hereditary colorectal cancer syndrome
Polymerase proofreading-associated polyposis
Journal
Clinical journal of gastroenterology
ISSN: 1865-7265
Titre abrégé: Clin J Gastroenterol
Pays: Japan
ID NLM: 101477246
Informations de publication
Date de publication:
22 Feb 2024
22 Feb 2024
Historique:
received:
13
11
2023
accepted:
11
01
2024
medline:
22
2
2024
pubmed:
22
2
2024
entrez:
22
2
2024
Statut:
aheadofprint
Résumé
Polymerase proofreading-associated polyposis (PPAP) is a rare disease with autosomal-dominant inheritance caused by germline variants in the POLE and POLD1 genes. PPAP has been reported to increase the risk of multiple cancers, including colon, duodenal, and endometrial cancers. Herein, we report a case in which multiple duodenal tumors led to the detection of a POLE mutation. A 43-year-old woman underwent esophagogastroduodenoscopy (EGD). Multiple duodenal tumors were detected, and all lesions were treated endoscopically. The patient had a history of multiple colorectal cancers and endometrial cancer along with a family history of cancer; hence, genetic testing was performed, and POLE variant, c.1270C > G (p.Leu424Val) was detected. Hereditary colorectal cancer syndromes should be considered in patients with colorectal cancer who have multiple cancers or a family history of cancer, and multigene panel sequencing is useful in confirming the diagnosis. In addition, duodenal tumors frequently coexist in patients with PPAP-carrying POLE variants, while the endoscopic treatment for duodenal tumors becomes safe and useful with several new approaches. Therefore, surveillance EGD is necessary in such patients for the early detection and treatment of duodenal tumors.
Identifiants
pubmed: 38386255
doi: 10.1007/s12328-024-01922-1
pii: 10.1007/s12328-024-01922-1
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. Japanese Society of Gastroenterology.
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