Literature DB >> 19463221

Pediatric juvenile polyposis syndromes: an update.

Sherry C Huang1, Steven H Erdman.   

Abstract

Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered. Using a case-based format, this article reviews the clinical features and provides updates on the three most common hamartomatous polyp syndromes of childhood: juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumor syndrome. Each syndrome has distinctive intestinal and extra-intestinal findings that, when present, can guide genetic counseling and testing. Lifelong cancer surveillance is crucial to disease prevention and the long-term health of these patients and their families.

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Year:  2009        PMID: 19463221     DOI: 10.1007/s11894-009-0033-3

Source DB:  PubMed          Journal:  Curr Gastroenterol Rep        ISSN: 1522-8037


  43 in total

Review 1.  Peutz-Jeghers syndrome and management recommendations.

Authors:  Francis M Giardiello; Jill D Trimbath
Journal:  Clin Gastroenterol Hepatol       Date:  2006-04       Impact factor: 11.382

Review 2.  Hamartomatous polyposis syndromes.

Authors:  Daniel Calva; James R Howe
Journal:  Surg Clin North Am       Date:  2008-08       Impact factor: 2.741

3.  Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

Authors:  Capucine Delnatte; Damien Sanlaville; Jean-Francois Mougenot; Joris-Robert Vermeesch; Claude Houdayer; Marie-Christine de Blois; David Genevieve; Olivier Goulet; Jean-Pierre Fryns; Francis Jaubert; Michel Vekemans; Stanislas Lyonnet; Serge Romana; Charis Eng; Dominique Stoppa-Lyonnet
Journal:  Am J Hum Genet       Date:  2006-04-14       Impact factor: 11.025

4.  Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Authors:  Marta S Sarquis; Shipra Agrawal; Lei Shen; Robert Pilarski; Xiao-Ping Zhou; Charis Eng
Journal:  Am J Hum Genet       Date:  2006-05-22       Impact factor: 11.025

5.  Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

Authors:  Marcus G Pezzolesi; Yan Li; Xiao-Ping Zhou; Robert Pilarski; Lei Shen; Charis Eng
Journal:  Am J Hum Genet       Date:  2006-09-29       Impact factor: 11.025

Review 6.  Protean PTEN: form and function.

Authors:  Kristin A Waite; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-03-01       Impact factor: 11.025

7.  The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Authors:  H R Wiedemann; G R Burgio; P Aldenhoff; J Kunze; H J Kaufmann; E Schirg
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

8.  Bannayan-Riley-Ruvalcaba syndrome.

Authors:  R J Gorlin; M M Cohen; L M Condon; B A Burke
Journal:  Am J Med Genet       Date:  1992-10-01

9.  Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome.

Authors:  Michael N Corradetti; Ken Inoki; Nabeel Bardeesy; Ronald A DePinho; Kun-Liang Guan
Journal:  Genes Dev       Date:  2004-07-01       Impact factor: 11.361

Review 10.  LKB1-dependent signaling pathways.

Authors:  Dario R Alessi; Kei Sakamoto; Jose R Bayascas
Journal:  Annu Rev Biochem       Date:  2006       Impact factor: 23.643

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  5 in total

1.  Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.

Authors:  Talal Almas; Salman Hussain; Reema Alsufyani; Hasan Alaeddin; Muhammad Kashif Khan
Journal:  Cureus       Date:  2020-10-28

Review 2.  MRI of the bowel - beyond inflammatory bowel disease.

Authors:  A Judit Machnitz; Janet R Reid; Michael R Acord; Asef B Khwaja; David M Biko; Rama S Ayyala; Sudha A Anupindi
Journal:  Pediatr Radiol       Date:  2018-08-04

3.  Etiology of lower gastrointestinal bleeding in children:a single center experience from southern iran.

Authors:  Mozhgan Zahmatkeshan; Ebrahim Fallahzadeh; Khadijesadat Najib; Bita Geramizadeh; Mahmood Haghighat; Mohammad Hadi Imanieh
Journal:  Middle East J Dig Dis       Date:  2012-10

4.  Juvenile polyposis syndrome.

Authors:  Wojciech Cichy; Beata Klincewicz; Andrzej Plawski
Journal:  Arch Med Sci       Date:  2014-06-27       Impact factor: 3.318

5.  BMP-IHH-mediated interplay between mesenchymal stem cells and osteoclasts supports calvarial bone homeostasis and repair.

Authors:  Yuxing Guo; Yuan Yuan; Ling Wu; Thach-Vu Ho; Junjun Jing; Hideki Sugii; Jingyuan Li; Xia Han; Jifan Feng; Chuanbin Guo; Yang Chai
Journal:  Bone Res       Date:  2018-10-17       Impact factor: 13.567

  5 in total

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