Literature DB >> 31211762

Gastrointestinal Polyposis in Pediatric Patients.

Suzanne P MacFarland1, Kristin Zelley1, Bryson W Katona2, Benjamin J Wilkins3, Garrett M Brodeur1, Petar Mamula4.   

Abstract

Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they can be the harbingers of multiorgan cancer risk and require close management and follow-up. Additionally, as many polyposis syndromes are inherited, appropriate genetic testing and management of relatives is vital for the health of the entire family. In this review, we discuss both common and uncommon childhood gastrointestinal polyposis syndromes in terms of clinical presentation, management, and surveillance. We also detail any additional malignancy risk and surveillance required in the pediatric age group (<21 years old). Through this review, we provide a framework for gastroenterologists to manage the multifaceted nature of pediatric polyposis syndromes.

Entities:  

Year:  2019        PMID: 31211762      PMCID: PMC7336255          DOI: 10.1097/MPG.0000000000002421

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN: 0277-2116            Impact factor:   2.839


  57 in total

1.  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

2.  Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Authors:  Isabel Quintana; Raquel Mejías-Luque; Mariona Terradas; Matilde Navarro; Virginia Piñol; Pilar Mur; Sami Belhadj; Elia Grau; Esther Darder; Ares Solanes; Joan Brunet; Gabriel Capellá; Markus Gerhard; Laura Valle
Journal:  Gut       Date:  2018-01-12       Impact factor: 23.059

Review 3.  Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.

Authors:  Carol Durno; C Richard Boland; Shlomi Cohen; Jason A Dominitz; Frank M Giardiello; David A Johnson; Tonya Kaltenbach; T R Levin; David Lieberman; Douglas J Robertson; Douglas K Rex
Journal:  Gastroenterology       Date:  2017-03-28       Impact factor: 22.682

4.  Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot.

Authors:  James R Howe; Jason Shellnut; Brian Wagner; John C Ringold; Mohamed G Sayed; Abul F Ahmed; Patrick M Lynch; Christopher I Amos; Pertti Sistonen; Lauri A Aaltonen
Journal:  Am J Hum Genet       Date:  2002-03-27       Impact factor: 11.025

Review 5.  Tumors and Related Lesions of the Pigmented Epithelium.

Authors:  Jerry A Shields; Carol L Shields
Journal:  Asia Pac J Ophthalmol (Phila)       Date:  2017 Mar-Apr

Review 6.  Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.

Authors:  Peter P Stanich; Robert Pilarski; Jonathan Rock; Wendy L Frankel; Samer El-Dika; Marty M Meyer
Journal:  World J Gastroenterol       Date:  2014-02-21       Impact factor: 5.742

7.  Risk factors for development of desmoid tumours in familial adenomatous polyposis.

Authors:  J H Lefevre; Y Parc; S Kernéis; N Goasguen; M Benis; R Parc; E Tiret
Journal:  Br J Surg       Date:  2008-09       Impact factor: 6.939

8.  The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Authors:  J R Howe; M G Sayed; A F Ahmed; J Ringold; J Larsen-Haidle; A Merg; F A Mitros; C A Vaccaro; G M Petersen; F M Giardiello; S T Tinley; L A Aaltonen; H T Lynch
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

9.  Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis.

Authors:  M Vitellaro; P Sala; S Signoroni; P Radice; S Fortuzzi; E M Civelli; G Ballardini; D A Kleiman; K P Morrissey; L Bertario
Journal:  Br J Surg       Date:  2014-02-03       Impact factor: 6.939

10.  Prevalence of and risk factors for thyroid carcinoma in patients with familial adenomatous polyposis: results of a multicenter study in Japan and a systematic review.

Authors:  Haruki Sada; Takao Hinoi; Hideki Ueno; Tatsuro Yamaguchi; Yasuhiro Inoue; Tsuyoshi Konishi; Hirotoshi Kobayashi; Yukihide Kanemitsu; Fumio Ishida; Hideyuki Ishida; Naohiro Tomita; Nagahide Matsubara; Kenichi Sugihara
Journal:  Surg Today       Date:  2018-09-04       Impact factor: 2.549

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  1 in total

1.  Multidisciplinary management for Peutz-Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing.

Authors:  Xiqiao Xu; Ruifeng Song; Kaiyue Hu; Ya Li; Haixia Jin; Bing Chen; Wenyan Song; Yile Zhang; Jiawei Xu; Yingpu Sun
Journal:  Orphanet J Rare Dis       Date:  2022-02-21       Impact factor: 4.123

  1 in total

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