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 |
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| 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 |
| format | Article |
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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.</description><identifier>ISSN: 1590-8658</identifier><identifier>EISSN: 1878-3562</identifier><identifier>DOI: 10.1016/j.dld.2023.11.034</identifier><identifier>PMID: 38071180</identifier><language>eng</language><publisher>Netherlands: Elsevier Ltd</publisher><subject>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</subject><ispartof>Digestive and liver disease, 2024-06, Vol.56 (6), p.1087-1094</ispartof><rights>2023 Editrice Gastroenterologica Italiana S.r.l.</rights><rights>Copyright © 2023 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c305t-244c3b9cbb8365351c94e42848f850671fd6832f82c48a732dd38c371ca803db3</cites><orcidid>0000-0003-3463-6659 ; 0000-0002-4554-2140 ; 0000-0002-7206-9117 ; 0000-0002-2789-2470 ; 0000-0002-4610-0950 ; 0000-0002-8156-2456 ; 0000-0002-0691-8555 ; 0000-0003-1133-1502</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.dld.2023.11.034$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,782,786,3552,27931,27932,46002</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38071180$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Negro, Silvia</creatorcontrib><creatorcontrib>Bao, Quoc Riccardo</creatorcontrib><creatorcontrib>Scarpa, Marco</creatorcontrib><creatorcontrib>Scognamiglio, Federico</creatorcontrib><creatorcontrib>Pucciarelli, Salvatore</creatorcontrib><creatorcontrib>Remo, Andrea</creatorcontrib><creatorcontrib>Agostini, Marco</creatorcontrib><creatorcontrib>D'Angelo, Edoardo</creatorcontrib><creatorcontrib>Mammi, Isabella</creatorcontrib><creatorcontrib>Schiavi, Francesca</creatorcontrib><creatorcontrib>Rossi, Silvia</creatorcontrib><creatorcontrib>Zingone, Fabiana</creatorcontrib><creatorcontrib>Ferrara, Francesco</creatorcontrib><creatorcontrib>Fantin, Alberto</creatorcontrib><creatorcontrib>Cristofori, Chiara</creatorcontrib><creatorcontrib>Guido, Ennio</creatorcontrib><creatorcontrib>Rizzotto, Erik Rosa</creatorcontrib><creatorcontrib>Intini, Rossana</creatorcontrib><creatorcontrib>Bergamo, Francesca</creatorcontrib><creatorcontrib>Fassan, Matteo</creatorcontrib><creatorcontrib>Salviati, Leonardo</creatorcontrib><creatorcontrib>Urso, Emanuele D.L.</creatorcontrib><title>Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk</title><title>Digestive and liver disease</title><addtitle>Dig Liver Dis</addtitle><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.</description><subject>Adenoma - genetics</subject><subject>Adenoma - pathology</subject><subject>Adenoma - surgery</subject><subject>Adenomatous Polyposis Coli - genetics</subject><subject>Adenomatous Polyposis Coli - surgery</subject><subject>Adult</subject><subject>Aged</subject><subject>Colonic Polyps - genetics</subject><subject>Colonic Polyps - pathology</subject><subject>Colonic Polyps - surgery</subject><subject>Colonoscopy</subject><subject>Colorectal cancer</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Colorectal Neoplasms - pathology</subject><subject>Colorectal polyposis</subject><subject>DNA Glycosylases - genetics</subject><subject>Familial adenomatous polyposis</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>MUTYH associated polyposis</subject><subject>Retrospective Studies</subject><issn>1590-8658</issn><issn>1878-3562</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kTtuFTEUhi1ERB6wABrkkmYGP-bhgQpFQJAS0dwUVJbHPgO--DHYM5FuxwLYQLbHSuLLTSIqKlvydz7r_D9CLympKaHdm21tnKkZYbymtCa8eYJOqOhFxduOPS33diCV6FpxjE5z3hLCaNeSZ-iYC9JTKsgJ-n21usXODrCOLibQi3JYGQjRq4zzLpgUPbzFm--AUyxYnPDV9ebrBfbrohYbA1bB4KU8z9Ht5vzn1y0Oqx8hYRuwdjZYXZReBfUNPITlL__PZ1oFXeBk84_n6GhSLsOL-_MMXX_8sDm_qC6_fPp8_v6y0py0S8WaRvNx0OMoeNfyluqhgYaJRkyiJV1PJ9MJzibBdCNUz5kxXGjeU60E4WbkZ-j1wTun-HOFvEhvswbnVIC4ZskGwoaumPqC0gOqU8w5wSTnZL1KO0mJ3Jcgt7KUIPclSEplKaHMvLrXr6MH8zjxkHoB3h0AKEveWEgyawslBmP3oUgT7X_0d6vOmZg</recordid><startdate>202406</startdate><enddate>202406</enddate><creator>Negro, Silvia</creator><creator>Bao, Quoc Riccardo</creator><creator>Scarpa, Marco</creator><creator>Scognamiglio, Federico</creator><creator>Pucciarelli, Salvatore</creator><creator>Remo, Andrea</creator><creator>Agostini, Marco</creator><creator>D'Angelo, Edoardo</creator><creator>Mammi, Isabella</creator><creator>Schiavi, Francesca</creator><creator>Rossi, Silvia</creator><creator>Zingone, Fabiana</creator><creator>Ferrara, Francesco</creator><creator>Fantin, Alberto</creator><creator>Cristofori, Chiara</creator><creator>Guido, Ennio</creator><creator>Rizzotto, Erik Rosa</creator><creator>Intini, Rossana</creator><creator>Bergamo, Francesca</creator><creator>Fassan, Matteo</creator><creator>Salviati, Leonardo</creator><creator>Urso, Emanuele D.L.</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3463-6659</orcidid><orcidid>https://orcid.org/0000-0002-4554-2140</orcidid><orcidid>https://orcid.org/0000-0002-7206-9117</orcidid><orcidid>https://orcid.org/0000-0002-2789-2470</orcidid><orcidid>https://orcid.org/0000-0002-4610-0950</orcidid><orcidid>https://orcid.org/0000-0002-8156-2456</orcidid><orcidid>https://orcid.org/0000-0002-0691-8555</orcidid><orcidid>https://orcid.org/0000-0003-1133-1502</orcidid></search><sort><creationdate>202406</creationdate><title>Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk</title><author>Negro, Silvia ; 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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.</abstract><cop>Netherlands</cop><pub>Elsevier Ltd</pub><pmid>38071180</pmid><doi>10.1016/j.dld.2023.11.034</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0003-3463-6659</orcidid><orcidid>https://orcid.org/0000-0002-4554-2140</orcidid><orcidid>https://orcid.org/0000-0002-7206-9117</orcidid><orcidid>https://orcid.org/0000-0002-2789-2470</orcidid><orcidid>https://orcid.org/0000-0002-4610-0950</orcidid><orcidid>https://orcid.org/0000-0002-8156-2456</orcidid><orcidid>https://orcid.org/0000-0002-0691-8555</orcidid><orcidid>https://orcid.org/0000-0003-1133-1502</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1590-8658 |
| ispartof | Digestive and liver disease, 2024-06, Vol.56 (6), p.1087-1094 |
| issn | 1590-8658 1878-3562 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| 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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