Literature DB >> 26485104

Clinical Characteristics of Multiple Colorectal Adenoma Patients Without Germline APC or MYH Mutations.

Alan H Tieu1, Daniel Edelstein, Jennifer Axilbund, Katharine E Romans, Lodewijk A Brosens, Elizabeth Wiley, Linda Hylind, Francis M Giardiello.   

Abstract

BACKGROUND: Patients with multiple colorectal adenomas (MCRA) without genetic cause are increasingly being diagnosed. The characteristics and natural history of this condition are not well studied.
MATERIALS AND METHODS: Twenty-seven patients with MCRA, with cumulatively 10 to 99 colorectal adenomas and without deleterious mutations of APC or MYH genes, were investigated. Results of colonoscopies with a mean follow-up of 4.9 years (range, 0 to 27 y) were evaluated. Findings from esophagogastroduodenoscopy and extracolonic manifestations were assessed.
RESULTS: The mean age at polyp diagnosis and MCRA diagnosis was 47.8±13.1 years (range, 21 to 72 y) and 50.4±14.6 years (range, 21 to 72 y), respectively. In 22% of patients another family member had MCRA. At first colonoscopy, the mean number of adenomas was 35.0±35.9 (range, 0 to 99). Serrated polyps were rare. Esophagogastroduodenoscopy revealed 47% of patients had upper tract neoplasia. Patients with upper tract findings were diagnosed with MCRA at significantly younger mean age than those without findings, P<0.05. Eighteen patients (67%) underwent colectomy with a mean time from diagnosis of MCRA of 3.1±1.3 years. After surgery, surveyed patients developed recurrent adenomas in retained colorectum. Nine patients (33%) had extracolonic cancers.
CONCLUSIONS: MCRA patients have a similar clinicopathologic phenotype to known syndromes of attenuated adenomatous polyposis and the majority have need for colectomy. The management of MCRA patients and families should parallel that of attenuated familial adenomatous polyposis and MUTYH-associated polyposis including surveillance of the upper tract.

Entities:  

Mesh:

Substances:

Year:  2016        PMID: 26485104      PMCID: PMC4834276          DOI: 10.1097/MCG.0000000000000416

Source DB:  PubMed          Journal:  J Clin Gastroenterol        ISSN: 0192-0790            Impact factor:   3.062


  13 in total

1.  Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Authors:  Arnaud Lagarde; Etienne Rouleau; Anthony Ferrari; Tetsuro Noguchi; Jinghua Qiu; Adrien Briaux; Violaine Bourdon; Virginie Rémy; Pascaline Gaildrat; José Adélaïde; Daniel Birnbaum; Rosette Lidereau; Hagay Sobol; Sylviane Olschwang
Journal:  J Med Genet       Date:  2010-08-03       Impact factor: 6.318

Review 2.  The genetics of FAP and FAP-like syndromes.

Authors:  Lara Lipton; Ian Tomlinson
Journal:  Fam Cancer       Date:  2006       Impact factor: 2.375

3.  Cancer statistics, 2010.

Authors:  Ahmedin Jemal; Rebecca Siegel; Jiaquan Xu; Elizabeth Ward
Journal:  CA Cancer J Clin       Date:  2010-07-07       Impact factor: 508.702

4.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

Review 5.  Familial adenomatous polyposis.

Authors:  Polymnia Galiatsatos; William D Foulkes
Journal:  Am J Gastroenterol       Date:  2006-02       Impact factor: 10.864

6.  The gene for familial polyposis coli maps to the long arm of chromosome 5.

Authors:  M Leppert; M Dobbs; P Scambler; P O'Connell; Y Nakamura; D Stauffer; S Woodward; R Burt; J Hughes; E Gardner
Journal:  Science       Date:  1987-12-04       Impact factor: 47.728

7.  American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

Authors: 
Journal:  J Clin Oncol       Date:  2003-04-11       Impact factor: 44.544

8.  Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Authors:  Stefanie Vogt; Natalie Jones; Daria Christian; Christoph Engel; Maartje Nielsen; Astrid Kaufmann; Verena Steinke; Hans F Vasen; Peter Propping; Julian R Sampson; Frederik J Hes; Stefan Aretz
Journal:  Gastroenterology       Date:  2009-09-02       Impact factor: 22.682

9.  APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Authors:  B Filipe; C Baltazar; C Albuquerque; S Fragoso; P Lage; I Vitoriano; S Mão de Ferro; I Claro; P Rodrigues; P Fidalgo; P Chaves; M Cravo; C Nobre Leitão
Journal:  Clin Genet       Date:  2009-09       Impact factor: 4.438

10.  Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.

Authors:  C Thirlwell; K M Howarth; S Segditsas; G Guerra; H J W Thomas; R K S Phillips; I C Talbot; M Gorman; M R Novelli; O M Sieber; I P M Tomlinson
Journal:  Br J Cancer       Date:  2007-05-15       Impact factor: 7.640

View more
  4 in total

1.  The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes.

Authors:  Daniel Herzig; Karin Hardiman; Martin Weiser; Nancy You; Ian Paquette; Daniel L Feingold; Scott R Steele
Journal:  Dis Colon Rectum       Date:  2017-09       Impact factor: 4.585

2.  Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Authors:  Ronja Adam; Isabel Spier; Bixiao Zhao; Michael Kloth; Jonathan Marquez; Inga Hinrichsen; Jutta Kirfel; Aylar Tafazzoli; Sukanya Horpaopan; Siegfried Uhlhaas; Dietlinde Stienen; Nicolaus Friedrichs; Janine Altmüller; Andreas Laner; Stefanie Holzapfel; Sophia Peters; Katrin Kayser; Holger Thiele; Elke Holinski-Feder; Giancarlo Marra; Glen Kristiansen; Markus M Nöthen; Reinhard Büttner; Gabriela Möslein; Regina C Betz; Angela Brieger; Richard P Lifton; Stefan Aretz
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

3.  Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).

Authors:  Kevin J Monahan; Nicola Bradshaw; Sunil Dolwani; Bianca Desouza; Malcolm G Dunlop; James E East; Mohammad Ilyas; Asha Kaur; Fiona Lalloo; Andrew Latchford; Matthew D Rutter; Ian Tomlinson; Huw J W Thomas; James Hill
Journal:  Gut       Date:  2019-11-28       Impact factor: 23.059

4.  Yield of upper gastrointestinal screening in colonic adenomatous polyposis of unknown etiology: a multicenter study.

Authors:  Filsan Farah; Swati G Patel; Jeannine M Espinoza; Nicholas Jensen; Bryson W Katona; Charles Muller; Sonia S Kupfer; Jennifer M Weiss; Alice Hinton; Peter P Stanich
Journal:  Endosc Int Open       Date:  2022-04-14
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.