Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Urso, Emanuele Damiano Luca; Leòn, Maurizio Ponz de; Vitellaro, Marco; Piozzi, Guglielmo Niccolò; Bao, Quoc Riccardo; Martayan, Aline; Remo, Andrea; Stigliano, V.; Oliani, Cristina; Cordisco, Emanuela Lucci; Pucciarelli, Salvatore; Ranzani, G N; Viel, Alessandra; Adami, F.; Alducci, Elisa; Amadori, Letizia; Arcangeli, Valentina; Balestrino, Luisa; Barana, D.; Bertario, Lucio; Bonanni, Bernardo; Boni, S. De; Bullian, Pierluigi; Carbonardi, F.; Carnevali, Ileana; Castelli, Paola; Celotto, Francesco; Cini, Giulia; Crivellari, Gino; Libera, Duilio Della; Dell’Elice, Anastasia; Digennaro, Maria; D'Urso, A; Fabretto, Antonella; Fanale, Daniele; Feroce, Irène; Furlan, Daniela; Ghiorzo, Paola; Giacchè, Mara; Gusella, Milena; Liserre, Barbara; Mammi, Isabella; Massuras, S.; Mazza, Débora Dutra da Silveira; Mollica, Eleonora; Morabito, Alessandro; Nardo, Giovanni Di; Palermo, Federica; Panizza, Elena; Patruno, Margherita; Pedroni, Monica; Pensotti, Valeria; Pozzi, S.; Presi, Silvia; Puzzono, Marta; Ravegnani, Mila; Ricci, Maria Teresa; Roncucci, Luca; Rossi, Giuseppina; Sala, Eric; Mete, L. Sanchez; Sandonà, Dorianna; Sciallero, Stefania; Serrano, Davide; Signoroni, Stefano; Spina, Francesca; Taborelli, Monica; Tedaldi, Gianluca; Tibiletti, M. G.; Tognazzo, S; Tolva, Gianluca; Trovato, C.; Turchetti, Daniela; Varvara, Dora; Vivanet, Caterina; Zovato, Stefania; Zuppardo, Raffaella Alessia

doi:10.1016/j.dld.2020.11.018

Cited by 10 publications

(4 citation statements)

References 45 publications

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“…It is strongly associated with colorectal cancer (CRC) risk [ 1 , 2 ]. Other hereditary familial polyposis syndromes like MUTYH -associated polyposis, an autosomal-recessive disorder, and the recently defined NAMP (non- APC/MUTYH polyposis) are indeed linked to a milder phenotype [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study

Colletti

Ciniselli

Signoroni

et al. 2022

Cancers

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Background: The balance between quality of life and colorectal cancer risk in familial adenomatous polyposis (FAP) patients is of primary importance. A cut-off of less than 30 polyps under 1 cm of diameter in the rectum has been used as an indication for performing ileo-rectal anastomosis (IRA) in terms of lower rectal cancer risk. This study aimed to assess clinical and surgical features of FAP patients who developed cancer of the rectal stump. Methods: This retrospective study included all FAP patients who underwent total colectomy/IRA from 1977 to 2021 and developed subsequent rectal cancer. Patients’ features were reported using descriptive statistics by considering the overall case series and within pre-specified classes of age (<20, 20–30, and >30 years) at first surgery. Results: Among the 715 FAP patients, 47 (6.57%, 95% confidence interval: 4.87; 8.65) developed cancer in the rectal stump during follow-up. In total, 57.45% of the population were male and 38.30% were proband. The median interval between surgery and the occurrence of rectal cancer was 13 years. This interval was wider in the youngest group (p-value: 0.012) than the oldest ones. Twelve patients (25.53%) received an endoscopic or minimally invasive resection. Amongst them, 61.70% were Dukes stage A cancers. Conclusions: There is a definite risk of rectal cancer after total colectomy/IRA; however, the time interval from the index procedure to cancer developing is long. Minimally invasive and endoscopic treatments should be the procedures of choice in patients with early stage cancers.

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Section: Introductionmentioning

confidence: 99%

Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study

Colletti

Ciniselli

Signoroni

et al. 2022

Cancers

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“…The relatively high percentage of MMR-w.t. patients identified only based on personal and familial history of LS-associated tumors (Amsterdam criteria II), in addition to the lower sensitivity of the selection strategy, may probably be due to the presence of uninvestigated germline mutations in other CRC susceptibility genes such as MUTYH, POLE, POLD1, PTEN, STK11, TP53, SMAD4, BMPR1A (56)(57)(58).…”

Section: Discussionmentioning

confidence: 99%

Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

et al. 2022

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Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors and is caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers is currently based on germline testing of subjects with MMR-deficient (dMMR) tumors or fulfilling clinical criteria, but the most efficient strategies to select patients who should be offered genetic testing are yet not well defined. In order to assess the most suitable selection mode to identify LS-related CRC patients, we retrospectively collected and analyzed all clinical and molecular information of 854 CRC patients, recruited from 2013 to 2021 at the University Hospital Policlinico “P. Giaccone” of Palermo (Italy), 100 of which were selected based on revised Bethesda guidelines, Amsterdam criteria II, or tissue MMR deficiency, and genetically tested for germline variants in LS-susceptibility genes. Our study showed that 32 out of 100 CRC patients harbored germline likely pathogenic/pathogenic variants in MMR genes. The analysis of tissue microsatellite instability (MSI) status according to the revised Bethesda guidelines has been to be the best selection approach. However, using different selection approaches as complementary strategies is useful to identify LS carriers, reducing underdiagnosis of this syndrome.

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“…Other adenomatous polyposes are a heterogeneous group of generally, but not exclusively, inherited conditions characterized by multiple colorectal adenomatous polyps in which LS and FAP were excluded 16 as described recently by AIFEG consensus statement (exept for MUTYH associated) 44 .…”

Section: Genetic Adenomatous Syndromes Of the Colorectal Tractmentioning

confidence: 99%

The histomorphological and molecular landscape of colorectal adenomas and serrated lesions

et al. 2021

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Summary The 2019 WHO classification of digestive system tumors significantly reformed the classificatory definition of serrated lesions of the colorectal mucosa and added new essential diagnostic criteria for both conventional adenomas and hereditary gastrointestinal polyposis syndromes. Histopathological examination of colorectal adenocarcinoma precursors lesions represents an important segment of daily clinical practice in a pathology department and is essential for the implementation of current colorectal adenocarcinoma secondary prevention strategies. This overview will focus on a schematic histopathological and molecular classification of precursor lesions arising within colorectal mucosa.

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Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Cited by 10 publications

References 45 publications

Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study

Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study

Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

The histomorphological and molecular landscape of colorectal adenomas and serrated lesions

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