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

Emanuele Damiano Luca Urso; Maurizio Ponz de Leon; Marco Vitellaro; Guglielmo Niccolò Piozzi; Quoc Riccardo Bao; Aline Martayan; Andrea Remo; Vittoria Stigliano; Cristina Oliani; Emanuela Lucci Cordisco; Salvatore Pucciarelli; Guglielmina Nadia Ranzani; Alessandra Viel; AIFEG group

doi:10.1016/j.dld.2020.11.018

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

Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25.

Collaborators

AIFEG group:
Francesca Adami¹², Elisa Alducci¹³, Lucia Amadori¹⁴, Valentina Arcangeli¹⁵, Luisa Balestrino¹⁶, Quoc Riccardo Bao¹⁷, Daniela Barana¹⁸, Lucio Bertario¹⁹, Bernardo Bonanni²⁰, Stefania Boni²¹, Pierluigi Bullian²², Fiorella Carbonardi²³, Ileana Carnevali²⁴, Paola Castelli²⁵, Francesco Celotto²⁶, Giulia Cini²⁷, Gino Crivellari²⁸, Duilio Della Libera²⁹, Anastasia Dell'elice³⁰, Maria Digennaro³¹, Alessandra D'urso³², Antonella Fabretto³³, Daniele Fanale³⁴, Irene Feroce³⁵, Daniela Furlan³⁶, Paola Ghiorzo³⁷, Mara Giacché³⁸, Milena Gusella³⁹, Barbara Liserre⁴⁰, Emanuela Lucci Cordisco⁴¹, Isabella Mammi⁴², Aline Martayan⁴³, Stefania Massuras⁴⁴, Daniela Mazzà⁴⁵, Eleonora Mollica⁴⁶, Alberto Morabito⁴⁷, Giorgia Nardo⁴⁸, Cristina Oliani⁴⁹, Flavia Palermo⁵⁰, Elena Panizza⁵¹, Margherita Patruno⁵², Monica Pedroni⁵³, Valeria Grazia Maria Pensotti⁵⁴, Guglielmo Niccolo Piozzi⁴, Maurizio Ponz de Leon⁵⁵, Simonetta Pozzi⁵⁶, Silvia Presi⁵⁷, Salvatore Pucciarelli⁵⁸, Marta Puzzono⁵⁹, Guglielmina Nadia Ranzani⁶⁰, Mila Ravegnani⁶¹, Andrea Remo⁶², Maria Teresa Ricci⁶³, Luca Roncucci⁶⁴, Giovanni Battsita Rossi⁶⁵, Elena Maria Sala⁶⁶, Lupe Sanchez Mete⁶⁷, Daniele Sandonà⁶⁸, Stefania Sciallero⁶⁹, Davide Serrano⁷⁰, Stefano Signoroni⁷¹, Francesca Spina⁷², Vittoria Stigliano⁷³, Monica Taborelli⁷⁴, Gianluca Tedaldi⁷⁵, Maria Grazia Tibiletti⁷⁶, Silvia Tognazzo⁷⁷, Gianluca Tolva⁷⁸, Cristina Maria Concetta Trovato⁷⁹, Daniela Turchetti⁸⁰, Emanuele Damiano Luca Urso⁸¹, Dora Varvara⁸², Alessandra Viel⁸³, Marco Vitellaro⁸⁴, Caterina Vivanet⁸⁵, Stefania Zovato⁸⁶, Raffaella Alessia Zuppardo⁸⁷

Affiliations

¹ Clinica Chirurgica I, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University Hospital of Padua, Italy.
² Department of Internal Medicine, University of Modena and Reggio Emilia. Retired, Italy.
³ Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy; Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. Electronic address: marco.vitellaro@istitutotumori.mi.it.
⁴ Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
⁵ Clinical Pathology Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
⁶ Pathology Unit, Services Department, ULSS9 Scaligera, Verona, Italy.
⁷ Division of Gastroenterology and Digestive Endoscopy, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
⁸ Medical Oncology Unit, ULSS 5 Polesana, Rovigo, Italy.
⁹ Institute of Genomic Medicine, Catholic University, Rome, Italy.
¹⁰ Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
¹¹ Functional Oncogenomics and Genetics Unit, IRCCS Centro di Riferimento Oncologico di Aviano (CRO), Aviano, Italy.
¹² Medical Oncology, Azienda Ospedaliera "Carlo Poma", Strada Lago Paiolo 10, Mantua 46100, Italy.
¹³ Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. Electronic address: elisa.alducci@iov.veneto.it.
¹⁴ Department of Internal Medicine, Modena University Hospital, Modena, Italy.
¹⁵ Department of Medical Oncology, Ospedale Infermi, Rimini 47923, Italy. Electronic address: valentina.arcangeli@auslromagna.it.
¹⁶ Genetica Medica, Dipartimento di Scienze Mediche e Sanità Pubblica, Università di Cagliari, Caligria, Italy.
¹⁷ Clinica Chirurgica I, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University Hospital of Padova, , Italy. Electronic address: bqr@hotmail.it.
¹⁸ Oncology Unit, Local Health and Social Care Unit ULSS8 Berica, Montecchio Maggiore, Italy.
¹⁹ Scientific Consultant of the Division of Prevention and Genetic Oncology, European Institute of Oncology, Milan 20141, Italy.
²⁰ Division of Prevention and Genetic Oncology, European Institute of Oncology, Milan 20141, Italy. Electronic address: bernardo.bonanni@ieo.it.
²¹ Medical Genetics Unit, San Martino Hospital, Belluno, Italy. Electronic address: stefania.boni@alice.it.
²² Medical Oncology, Ulss 1, Feltre Hospital, Feltre, Italy.
²³ Medical Oncology, Azienda Ospedaliera "Carlo Poma", Strada Lago Paiolo 10, Mantua 46100, Italy. Electronic address: fiorella.carbonardi@asst-mantova.it.
²⁴ Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy. Electronic address: ileana.carnevali@asst-settelaghi.it.
²⁵ Department of Pathology, Sacro Cuore-Don Calabria Hospital, Negrar, Italy. Electronic address: paola.castelli@sacrocuore.it.
²⁶ Clinica Chirurgica I, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University Hospital of Padova, Via Giustiniani 2, Padova 35128, Italy.
²⁷ Functional Oncogenomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, PN, Italy. Electronic address: cinigiulia@cro.it.
²⁸ Clinical and Experimental Oncology Department, Veneto Institute of Oncology IOV - IRCCS, Padua - Italy. Electronic address: gino.crivellari@iov.veneto.it.
²⁹ Oncological Gastrointestinal Surgery Department, S. Maria del Prato Hospital, Feltre, Italy.
³⁰ Department of Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, PN, Italy.
³¹ Experimental Oncology Unit, IRCCS Istituto Tumori 'Giovanni Paolo II' of Bari, Bari I-70124, Italy. Electronic address: madi1963@libero.it.
³² U.O.C. Anatomia Patologica, ULSS1 Dolomiti, Presidio Ospedaliero di Feltre, Feltre 32032, Italy. Electronic address: alessandra.durso@aulss1.veneto.it.
³³ S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: antonella.fabretto@burlo.trieste.it.
³⁴ Department of Surgical, Oncological and Oral Sciences, Section of Medical Oncology, University of Palermo, Palermo 90127, Italy. Electronic address: fandan@libero.it.
³⁵ Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti, 435, Milan 20141, Italy. Electronic address: irene.feroce@ieo.it.
³⁶ Anatomic Pathology Unit, Department of Medicine and Surgery, University of Insubria, Varese, Italy. Electronic address: daniela.furlan@uninsubria.it.
³⁷ Genetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. Electronic address: paola.ghiorzo@unige.it.
³⁸ Endocrine and Metabolic Disease Unit, Department of Medicine, ASST Spedali Civili of Brescia, Brescia, Italy. Electronic address: mara.giacche@ASST-spedalicivili.it.
³⁹ Oncology Unit, AULSS5 Polesana, Rovigo, Italy. Electronic address: milenagusella@libero.it.
⁴⁰ Department of Pathology, Fondazione Poliambulanza, Brescia, Italy. Electronic address: barbara.liserre@poliambulanza.it.
⁴¹ Institute of Genomic Medicine, Catholic University, Rome, Italy. Electronic address: emanuela.luccicordisco@unicatt.it.
⁴² Medical Genetics Unit, Dolo General Hospital, Venezia, Italy. Electronic address: isabella.mammi@iov.veneto.it.
⁴³ Clinical Pathology Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy. Electronic address: aline_martayan@yahoo.it.
⁴⁴ Department of Medical Genetics, University of Torino, Torino, Italy. Electronic address: stefania.massuras@unito.it.
⁴⁵ Fondazione Policlinico Universitario A. Gemelli IRCCS, Unità Operativa Complessa di Genetica Medica, Rome, Italy.
⁴⁶ S.C. Chirurgia Generale, Portogruaro, VE, Italy.
⁴⁷ Oncology, Cittadella, PD, Italy.
⁴⁸ U.O.C. Immunologia e Diagnostica Molecolare Oncologica, Istituto Oncologico Veneto IOV IRCCS, Padova 35128, Italy. Electronic address: giorgia.nardo@iov.veneto.it.
⁴⁹ Medical Oncology, Ulss 5 Polesana, Rovigo, Italy. Electronic address: cristina.oliani@aulss5.veneto.it.
⁵⁰ Department of Genetics, University of Genova, Genova, Italy.
⁵¹ Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy. Electronic address: elena.panizza@asst-mantova.it.
⁵² Experimental Oncology-Center for the Study of Hereditary Cancers, IRCCS-Istituto Tumori "Giovanni Paolo II", Bari, Italy.
⁵³ Dipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, Policlinico, Via del Pozzo n.71, Modena 41100, Italy. Electronic address: monica.pedroni@unimore.it.
⁵⁴ Cogentech s.r.l. Società Benefit a Socio Unico, Milan, Italy. Electronic address: valeria.pensotti@cogentech.it.
⁵⁵ Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia. Retired, Italy.
⁵⁶ Division of Abdomino-Pelvic and Minimally Invasive Surgery, European Institute of Oncology, Via G. Ripamonti, 435, Milan 20141, Italy. Electronic address: simonetta.pozzi@ieo.it.
⁵⁷ Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy. Electronic address: presi.silvia@hsr.it.
⁵⁸ Clinica Chirurgica I, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University Hospital of Padova, Italy. Electronic address: puc@unipd.it.
⁵⁹ Division of Experimental Oncology, Gastroenterology and Gastrointestinal Endoscopy Unit, IRCCS Ospedale San Raffaele Scientific Institute, Milan 20132, Italy. Electronic address: tp33@hotmail.it.
⁶⁰ Department of Biology and Biotechnology, University of Pavia, Pavia 27100, Italy. Electronic address: guglielmina.ranzani@unipv.it.
⁶¹ Romagna Cancer Registry, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy. Electronic address: mila.ravegnani@irst.emr.it.
⁶² Pathology Unit, Services Department, ULSS9 "Scaligera", Verona 37122, Italy. Electronic address: andrea.remo@aulss9.veneto.it.
⁶³ Unit of Hereditary Digestive Tract Tumour Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. Electronic address: mariateresa.ricci@istitutotumori.mi.it.
⁶⁴ Department of Diagnostic and Clinical Medicine, and Public Health, University of Modena and Reggio Emilia, Modena I-41125, Italy. Electronic address: luca.roncucci@unimore.it.
⁶⁵ Endoscopy Unit, National Cancer Institute and Pascale Foundation, Naples, Italy. Electronic address: g.rossi@istitutotumori.na.it.
⁶⁶ Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, Monza 20900, Italy. Electronic address: elena.sala@asst-monza.it.
⁶⁷ Division of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy. Electronic address: lupe.sanchez@ifo.gov.it.
⁶⁸ Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua, PD, Italy. Electronic address: daniele.sandona.2@studenti.unipd.it.
⁶⁹ Ospedale Policlinico San Martino IRCCS, Genoa, Italy. Electronic address: stefania.sciallero@hsanmartino.it.
⁷⁰ Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti, 435, Milan 20141, Italy. Electronic address: davide.serrano@ieo.it.
⁷¹ Unit of Hereditary Digestive Tract Tumour Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. Electronic address: stefanosignoroni@yahoo.it.
⁷² Department of Medical Genetics, Binaghi Hospital, Cagliari, Italy.
⁷³ Division of Gastroenterology and Digestive Endoscopy IRCCS Regina Elena National Cancer Institute, Rome, Italy. Electronic address: vittoria.stigliano@ifo.gov.it.
⁷⁴ Cytogenetics laboratory, Ente Ospedaliero Cantonale, Bellinzona, Switzerland. Electronic address: monica.taborelli@eoc.ch.
⁷⁵ Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy. Electronic address: gianluca.tedaldi@irst.emr.it.
⁷⁶ Ospedale di Circolo ASST Settelaghi, Centro di Ricerca Tumori Eredo-Familiari, Università dell'Insubria, Varese 21100, Italy. Electronic address: MariaGrazia.Tibiletti@asst-settelaghi.it.
⁷⁷ Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. Electronic address: silvia.tognazzo@iov.veneto.it.
⁷⁸ Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy. Electronic address: jankska@yahoo.it.
⁷⁹ Division of Endoscopy, IEO, European Institute of Oncology IRCCS, Milan, Italy. Electronic address: cristina.trovato@ieo.it.
⁸⁰ Center for Hereditary Cancer Studies, Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy. Electronic address: daniela.turchetti@unibo.it.
⁸¹ Clinica Chirurgica I, Department of Surgical, Oncological and Gastroenterological Sciences (DiSCOG), University Hospital of Padova, Italy. Electronic address: edl.urso@unipd.it.
⁸² Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari, Bari, Italy. Electronic address: dora.varvara@yahoo.it.
⁸³ Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy. Electronic address: aviel@cro.it.
⁸⁴ Unit of Hereditary Digestive Tract Tumour Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. Electronic address: Marco.Vitellaro@istitutotumori.mi.it.
⁸⁵ Department of Medical Genetics, Cagliari Hospital, Cagliari, Italy. Electronic address: cateviva@libero.it.
⁸⁶ Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IOV- IRCCS, Padua, Italy. Electronic address: stefania.zovato@iov.veneto.it.
⁸⁷ Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy. Electronic address: zuppardo.raffaellaalessia@hsr.it.

PMID: 33504457
DOI: 10.1016/j.dld.2020.11.018

Abstract

An expert consensus panel convened by the Italian Association for Inherited and Familial Gastrointestinal Tumors (Associazione Italiana per lo Studio della Familiarità ed Ereditarietà dei Tumori Gastrointestinali, AIFEG) reviewed the literature and agreed on a number of position statements regarding the definition and management of polyposis coli without an identified pathogenic mutation on the APC or MUTYH genes, defined in the document as NAMP (non-APC/MUTYH polyposis).

Keywords: Cancer Genetics; Colorectal cancer; Colorectal polyposis not associated with APC/MUTYH mutation; Consensus development conference; Endoscopic surveillance; Polyposis management guideline; Surgical Management.

Publication types

Practice Guideline

MeSH terms

Adenomatous Polyposis Coli / diagnosis*
Adenomatous Polyposis Coli / therapy*
Adenomatous Polyposis Coli Protein / genetics
Consensus
DNA Glycosylases / genetics
Germ Cells
Humans
Italy
Societies, Medical

Substances

APC protein, human
Adenomatous Polyposis Coli Protein
DNA Glycosylases
mutY adenine glycosylase