Clinical case seminars: Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 12, 1998, Pages 4191-4194

  Eng, Charis ^a,b,g,i   Marsh, Debbie J ^a,c   Robinson, Bruce G ^c   Chow, C W ^d   Patton, Michael A ^f   Southey, Melissa C ^e   Venter, Deon J ^e   Ponder, Bruce A J ^g   Milla, Peter J ^h   Smith, Virpi V ^h  

^a HARVARD MEDICAL SCHOOL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e PETER MACCALLUM CANCER CENTRE   (Australia)

^f ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE; DROSOPHILA PROTEIN; ONCOPROTEIN; PROTEIN RET; RET ONCOGENE PROTEIN, DROSOPHILA;

ADOLESCENT; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; CONFERENCE PAPER; FAMILIAL INCIDENCE; FEMALE; GANGLIONEUROMA; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HISTOPATHOLOGY; HUMAN; INFANT; MALE; NEWBORN; PRIORITY JOURNAL; PROTO ONCOGENE; THYROIDECTOMY; ARTICLE; GENETICS; INTESTINE TUMOR; MUTATION; PATHOLOGY;

CODON; DROSOPHILA PROTEINS; FEMALE; GANGLIONEUROMA; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; INTESTINAL NEOPLASMS; MALE; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0032246076     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.83.12.5352     Document Type: Conference Paper

References (13)

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2. 2. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol. In press.
3. 3. Eng C, Clayton D, Schuffenecker I, et al. 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA. 276:1575-1579.
4. 4. Gimm O, Marsh DJ, Andrew SD, et al. 1997 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. 82:3902-3904.
5. 5. Smith DP, Houghton C, Ponder BAJ. 1997 Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene. 15:1213-1217.
6. 6. Mathew CGP, Chin KS, Easton DF, et al. 1987 A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature. 328:527-528.
7. 7. Eng C, Smith DP, Mulligan LM, et al. 1994 Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet. 3:237-241.
8. 8. Hofstra RMW, Landsvater RM, Ceccherini I, et al. 1994 A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 367:375-376.
9. 9. Marsh DJ, Learoyd DL, Andrew [scap]sd, et al. 1996 Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf). 44:249-257.
10. 10. Wells SA, Chi DD, Toshima D, et al. 1994 Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg. 200:237-250.
11. 11. Eng C, Ponder BAJ. 1998 Multiple endocrine neoplasia type. 2 and medullary thyroid carcinoma. In: Grossman A, ed. Clinical endocrinology. Oxford: Blackwell; 635-650.
12. 12. Offit K, Biesecker BB, Burt RW, Clayton EW, Garber JE, Kahn MJE. 1996 Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. J Clin Oncol. 14:1730-1736.
13. 13. Gordon CM, Majzoub JA, Marsh DJ, et al. 1998 Four cases of mucosal neuroma syndrome: MEN 2B or not 2B. J Clin Endocrinol Metab. 83:17-20.