Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. J Clin Endocrinol Metab 2004 Aug;89(8):4142-5
Date
08/05/2004Pubmed ID
15292360DOI
10.1210/jc.2004-0041Scopus ID
2-s2.0-4043122025 (requires institutional sign-in at Scopus site) 36 CitationsAbstract
Prior experience in kindreds with a codon 891 RET protooncogene mutation indicates that carriers of this mutation develop only hereditary medullary thyroid carcinoma without evidence of other manifestations of multiple endocrine neoplasia type 2. In this paper, we report the first documented case in which medullary thyroid carcinoma and pheochromocytoma were clinically expressed in members of a family affected by the codon 891 RET mutation. Genetic analysis of the RET protooncogene in this family revealed an exon 15 missense mutation at codon 891 that resulted in a serine to alanine amino acid substitution. These findings indicate that patients with this mutation should be screened for pheochromocytoma.
Author List
Jimenez C, Habra MA, Huang SC, El-Naggar A, Shapiro SE, Evans DB, Cote G, Gagel RFAuthor
Douglas B. Evans MD Chair, Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adrenal Gland NeoplasmsAdult
Carcinoma, Medullary
Codon
Female
Genes, Dominant
Genotype
Germ-Line Mutation
Humans
Pedigree
Phenotype
Pheochromocytoma
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
Thyroid Neoplasms
