Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk

Multiple colorectal adenomas (MCRAs) can result from APC (AFAP) or biallelic MUTYH (MAP) mutations, but most patients are wild type and referred to as non-APC/MUTYH polyposis (NAMP). We aim to examine the risk of colorectal cancer (CRC) and the role of endoscopy in managing patients with MCRAs, with...

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Veröffentlicht in:Digestive and liver disease 2024-06, Vol.56 (6), p.1087-1094
Hauptverfasser: Negro, Silvia, Bao, Quoc Riccardo, Scarpa, Marco, Scognamiglio, Federico, Pucciarelli, Salvatore, Remo, Andrea, Agostini, Marco, D'Angelo, Edoardo, Mammi, Isabella, Schiavi, Francesca, Rossi, Silvia, Zingone, Fabiana, Ferrara, Francesco, Fantin, Alberto, Cristofori, Chiara, Guido, Ennio, Rizzotto, Erik Rosa, Intini, Rossana, Bergamo, Francesca, Fassan, Matteo, Salviati, Leonardo, Urso, Emanuele D.L.
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container_end_page 1094
container_issue 6
container_start_page 1087
container_title Digestive and liver disease
container_volume 56
creator Negro, Silvia
Bao, Quoc Riccardo
Scarpa, Marco
Scognamiglio, Federico
Pucciarelli, Salvatore
Remo, Andrea
Agostini, Marco
D'Angelo, Edoardo
Mammi, Isabella
Schiavi, Francesca
Rossi, Silvia
Zingone, Fabiana
Ferrara, Francesco
Fantin, Alberto
Cristofori, Chiara
Guido, Ennio
Rizzotto, Erik Rosa
Intini, Rossana
Bergamo, Francesca
Fassan, Matteo
Salviati, Leonardo
Urso, Emanuele D.L.
description Multiple colorectal adenomas (MCRAs) can result from APC (AFAP) or biallelic MUTYH (MAP) mutations, but most patients are wild type and referred to as non-APC/MUTYH polyposis (NAMP). We aim to examine the risk of colorectal cancer (CRC) and the role of endoscopy in managing patients with MCRAs, with a specific focus on clinical features and genotype. Records of MRCAs between 2000 and 2022 were retrospectively analysed. Patients were divided according to the genotype (MAP vs. NAMP) and the number of categorised polyps’ burden (group 1: 10–24, group 2: 25–49, and group 3: 50–99 adenomas). Predictors of outcome were CRC-free survival (CRC-FS) and Surgery free-survival (S-FS). 220 patients were enrolled (NAMP n = 178(80.0%)). CRC at diagnosis was more frequent in group 3 (p = 0.01), without significant differences between the genotypes (p = 0.20). At a follow-up of 83(41–164) months, 15(7%) patients developed CRC during surveillance. CRC-FS was not correlated to genotype (p = 0.07) or polyps’ number (p = 0.33), while S-FS was similar in MAP and NAMP (p = 0.22) and lower in groups 2 and 3 (p = 0.0001). MAP and NAMP have the same CRC risk and no difference in treatment. Endoscopic surveillance compared favorably with surgery in avoiding CRC risk, even in patients with more severe colorectal polyposis.
doi_str_mv 10.1016/j.dld.2023.11.034
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subjects Adenoma - genetics
Adenoma - pathology
Adenoma - surgery
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - surgery
Adult
Aged
Colonic Polyps - genetics
Colonic Polyps - pathology
Colonic Polyps - surgery
Colonoscopy
Colorectal cancer
Colorectal Neoplasms - genetics
Colorectal Neoplasms - pathology
Colorectal polyposis
DNA Glycosylases - genetics
Familial adenomatous polyposis
Female
Genotype
Humans
Male
Middle Aged
Mutation
MUTYH associated polyposis
Retrospective Studies
title Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk
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