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Literature DB >> 22811860

Hirschsprung disease of the colon, a vaginal mass and medullary thyroid cancer - a RET oncogene driven problem.

Romy Pandey¹, Tiffany Thurow, Robert de W Marsh.

Abstract

This case report emphasizes the fact that all patients with Hirschsprung disease should be screened for RET Oncogene mutation as there is a well known association between Hirschsprung Disease and Multiple Endocrine Neoplasia (MEN) Type 2A. It also reminds us that Medullary Thyroid Carcinoma is known to cause elevated levels of CEA which does not originate from gastrointestinal tract.

Entities: Disease Gene Species

Keywords: Hirschsprung Disease; Medullary Thyroid Cancer; RET Oncogene

Year: 2011 PMID： 22811860 PMCID： PMC3397624 DOI： 10.3978/j.issn.2078-6891.2011.028

Source DB: PubMed Journal: J Gastrointest Oncol ISSN： 2078-6891

15 in total

1. Loss of function effect of RET mutations causing Hirschsprung disease.

Authors: B Pasini; M G Borrello; A Greco; I Bongarzone; Y Luo; P Mondellini; L Alberti; C Miranda; E Arighi; R Bocciardi
Journal: Nat Genet Date: 1995-05 Impact factor: 38.330

2. Validation and reproducibility of a microarray-based gene expression test for tumor identification in formalin-fixed, paraffin-embedded specimens.

Authors: Raji Pillai; Rebecca Deeter; C Ted Rigl; J Scott Nystrom; Meredith Halks Miller; Ljubomir Buturovic; W David Henner
Journal: J Mol Diagn Date: 2010-12-23 Impact factor: 5.568

3. Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

Authors: R A Decker; M L Peacock; P Watson
Journal: Hum Mol Genet Date: 1998-01 Impact factor: 6.150

4. C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

Authors: P Caron; T Attié; D David; J Amiel; F Brousset; P Roger; A Munnich; S Lyonnet
Journal: J Clin Endocrinol Metab Date: 1996-07 Impact factor: 5.958

Review 5. Pathogenesis of Hirschsprung's disease.

Authors: G Martucciello; I Ceccherini; M Lerone; V Jasonni
Journal: J Pediatr Surg Date: 2000-07 Impact factor: 2.545

6. Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Authors: A Pelet; O Geneste; P Edery; A Pasini; S Chappuis; T Atti; A Munnich; G Lenoir; S Lyonnet; M Billaud
Journal: J Clin Invest Date: 1998-03-15 Impact factor: 14.808

7. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

Authors: C Eng; D Clayton; I Schuffenecker; G Lenoir; G Cote; R F Gagel; H K van Amstel; C J Lips; I Nishisho; S I Takai; D J Marsh; B G Robinson; K Frank-Raue; F Raue; F Xue; W W Noll; C Romei; F Pacini; M Fink; B Niederle; J Zedenius; M Nordenskjöld; P Komminoth; G N Hendy; L M Mulligan
Journal: JAMA Date: 1996-11-20 Impact factor: 56.272

8. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.

Authors: O Gimm; D J Marsh; S D Andrew; A Frilling; P L Dahia; L M Mulligan; J D Zajac; B G Robinson; C Eng
Journal: J Clin Endocrinol Metab Date: 1997-11 Impact factor: 5.958