Current management of familial adenomatous polyposis

被引:5
作者
Lauricella, Sara [1 ]
Rausa, Emanuele [1 ]
Pellegrini, Ilaria [2 ]
Ricci, Maria Teresa [1 ]
Signoroni, Stefano [1 ]
Palassini, Elena [2 ]
Cavalcoli, Federica [3 ]
Pasanisi, Patrizia [4 ]
Colombo, Chiara [5 ]
Vitellaro, Marco [1 ,6 ]
机构
[1] Fdn IRCCS Ist Nazl Tumori, Hereditary Digest Tract Tumors Unit, Milan, Italy
[2] Fdn IRCCS Ist Nazl Tumori, Med Oncol Unit, Milan, Italy
[3] Fdn IRCCS Ist Nazl Tumori, Gastroenterol & Digest Endoscopy Unit, Milan, Italy
[4] Fdn IRCCS Ist Nazl Tumori, Nutr Res & Metab Unit, Milan, Italy
[5] Fdn IRCCS Ist Nazl Tumori, Sarcoma Surg Unit, Via Venezian 1, I-20133 Milan, Italy
[6] Fdn IRCCS Ist Nazl Tumori, Colorectal Surg Unit, Milan, Italy
关键词
APC-associated polyposis; familial adenomatous polyposis (FAP); colorectal cancer; genetic testing; surveillance; desmoid-type fibromatosis (DTF); laparoscopic total colectomy/ileorectal anastomosis (IRA); total proctocolectomy/ileal pouch-anal anastomosis (IPAA); HEREDITARY COLORECTAL-CANCER; DESMOID TUMORS; NATURAL-HISTORY; DUODENAL ADENOMAS; RESTORATIVE PROCTOCOLECTOMY; PROPHYLACTIC COLECTOMY; SECONDARY PROCTECTOMY; ENDOSCOPIC MANAGEMENT; SURGICAL-TREATMENT; PHENOTYPE FACTORS;
D O I
10.1080/14737140.2024.2344649
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Introduction: APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers. Areas covered: The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices. Expert opinion: FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
引用
收藏
页码:363 / 377
页数:15
相关论文
共 139 条
[1]   Comparison of cap-assisted endoscopy vs. side-viewing endoscopy for examination of the major duodenal papilla: a randomized, controlled, noninferiority crossover study [J].
Abdelhafez, Mohamed ;
Phillip, Veit ;
Hapfelmeier, Alexander ;
Sturm, Veronika ;
Elnegouly, Mayada ;
Dollhopf, Markus ;
Kassem, Abdelmeguid ;
Klare, Peter ;
Nennstiel, Simon ;
Schmid, Roland M. ;
von Delius, Stefan ;
Eckel, Florian .
ENDOSCOPY, 2019, 51 (05) :419-426
[2]   Cold snare polypectomy for duodenal adenomas in familial adenomatous polyposis: a prospective international cohort study [J].
Aelvoet, Arthur S. ;
Karstensen, John G. ;
Bastiaansen, Barbara A. J. ;
van Leerdam, Monique E. ;
Balaguer, Francesc ;
Kaminski, Michal ;
Hompes, Roel ;
Bossuyt, Patrick M. M. ;
Ricciardiello, Luigi ;
Latchford, Andrew ;
Jover, Rodrigo ;
Daca-Alvarez, Maria ;
Pellise, Maria ;
Dekker, Evelien .
ENDOSCOPY INTERNATIONAL OPEN, 2023, 11 (11) :E1056-E1062
[3]   Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis [J].
Aelvoet, Arthur S. ;
Struik, Daphne ;
Bastiaansen, Barbara A. J. ;
Bemelman, Willem A. ;
Hompes, Roel ;
Bossuyt, Patrick M. M. ;
Dekker, Evelien .
FAMILIAL CANCER, 2022, 21 (04) :429-439
[4]   The genetic factors associated with Wnt signaling pathway in colorectal cancer [J].
Aghabozorgi, Amirsaeed Sabeti ;
Ebrahimi, Reyhane ;
Bahiraee, Alireza ;
Tehrani, Sadra Samavarchi ;
Nabizadeh, Fatemeh ;
Setayesh, Leila ;
Jafarzadeh-Esfehani, Reza ;
Ferns, Gordon A. ;
Avan, Amir ;
Rashidi, Zahra .
LIFE SCIENCES, 2020, 256
[5]   Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses [J].
Aitken, Sarah J. ;
Presneau, Nadege ;
Kalimuthu, Sangeetha ;
Dileo, Palma ;
Berisha, Fitim ;
Tirabosco, Roberto ;
Amary, M. Fernanda ;
Flanagan, Adrienne M. .
VIRCHOWS ARCHIV, 2015, 467 (02) :203-210
[6]   The Role of Gut Microbiota Biomodulators on Mucosal Immunity and Intestinal Inflammation [J].
Amoroso, Chiara ;
Perillo, Federica ;
Strati, Francesco ;
Fantini, Massimo ;
Caprioli, Flavio ;
Facciotti, Federica .
CELLS, 2020, 9 (05)
[7]   Long-term survival between total colectomy versus proctocolectomy in patients with FAP: a registry-based, observational cohort study [J].
Ardoino, Ilaria ;
Signoroni, Stefano ;
Malvicini, Enzo ;
Ricci, Maria Teresa ;
Biganzoli, Elia M. ;
Bertario, Lucio ;
Occhionorelli, Savino ;
Vitellaro, Marco .
TUMORI JOURNAL, 2020, 106 (02) :139-148
[8]   Morphology and natural history of familial adenomatous polyposis-associated dysplastic fundic gland polyps [J].
Arnason, Thomas ;
Liang, Wen-Yih ;
Alfaro, Eduardo ;
Kelly, Paul ;
Chung, Daniel C. ;
Odze, Robert D. ;
Lauwers, Gregory Y. .
HISTOPATHOLOGY, 2014, 65 (03) :353-362
[9]   MORTALITY IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS [J].
ARVANITIS, ML ;
JAGELMAN, DG ;
FAZIO, VW ;
LAVERY, IC ;
MCGANNON, E .
DISEASES OF THE COLON & RECTUM, 1990, 33 (08) :639-642
[10]   Transanal minimally invasive surgery for total mesorectal excision (TAMIS-TME): results and experience with the first 20 patients undergoing curative-intent rectal cancer surgery at a single institution [J].
Atallah, S. ;
Martin-Perez, B. ;
Albert, M. ;
deBeche-Adams, T. ;
Nassif, G. ;
Hunter, L. ;
Larach, S. .
TECHNIQUES IN COLOPROCTOLOGY, 2014, 18 (05) :473-480