Isolated intestinal ganglioneuromatosis with a new mutation of RET proto-oncogene

European Journal of Gastroenterology and Hepatology

Volumn 18, Issue 7, 2006, Pages 803-805

  Nguyen, An T T ^a,b   Zacharin, Margaret R ^b,c   Smith, Margaret ^d   Hardikar, Winita ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

Ganglioneuromatosis; Multiple endocrine neoplasia; RET proto oncogene

Indexed keywords

GLYCINE; IRON; PROTEIN RET; SERINE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; COLON POLYP; DNA POLYMORPHISM; FEMALE; GANGLIONEUROMA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INTESTINE GANGLIONEUROMATOSIS; IRON DEFICIENCY ANEMIA; JUVENILE POLYP; MALE; MELENA; MULTIPLE ENDOCRINE NEOPLASIA; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE;

ADOLESCENT; CHILD; COLONIC NEOPLASMS; FEMALE; GANGLIONEUROMA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; MUTATION; PROTO-ONCOGENE PROTEINS C-RET;

EID: 33745260712     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.meg.0000224473.66675.ad     Document Type: Article

References (10)

1. Smith VV, Eng C, Milla PJ. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2b: Implications for treatment. Gut 1999; 45:143-146.
2. Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 1996; 335:943-951.
3. Gimm O, Marsh DJ, Andrew SD, Frilling A, Dahia PL, Mulligan LM, et al. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2b without codon 918 mutation. J Clin Endocrinol Metab 1997; 82:3902-3904.
4. Gordon C, Majzoub JA, Marsh DJ, Mulliken JB, Ponder BA, Robinson BG, Eng C. Four cases of mucosal neuroma syndrome: multiple endocrine neoplasm 2b or not 2b? J Clin Endocrinol Metab 1998; 83:17-20.
5. Eng C, Marsh DJ, Robinson BG, Chow CW, Patton MA, Southey MC, et al. Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis. J Clin Endocrinol Metab 1998; 83:4191-4194.
6. Fernandez RM, Navarro E, Antinolo G, Ruiz-Ferrer M, Borrego S. Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients. Int J Mol Med 2006; 17:575-581.
7. Gil L, Azanedo M, Pollan M, Cristobal E, Arribas B, Garcia-Albert L, et al. Genetic analysis of RET, GFR alpha 1 and GNDF genes in Spanish families with multiple endocrine neoplasia type 2A. Int J Cancer 2002; 99:299-304.
8. Eng C, Ponder BAJ. Multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Oxford: Blackwell Sciences; 1998.
9. Lips CJ, Landsvater RM, Hoppener JW, Geerdink RA, Blijham G, van Veen JM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2a [see Comment]. N Engl J Med 1994; 331:828-835.
10. Marsh DJ, McDowall D, Hyland VJ, Andrew SD, Schnitzler M, Gaskin EL, et al. The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clin Endocrinol 1996; 44:213-220.