Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

Fred H Menko; Rob B van der Luijt; Irene A J de Valk; Arno W F T Toorians; Jan M Sepers; Paul J van Diest; Cornelis J M Lips

doi:10.1210/jcem.87.1.8136

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

J Clin Endocrinol Metab. 2002 Jan;87(1):393-7. doi: 10.1210/jcem.87.1.8136.

Authors

Fred H Menko¹, Rob B van der Luijt, Irene A J de Valk, Arno W F T Toorians, Jan M Sepers, Paul J van Diest, Cornelis J M Lips

Affiliation

¹ Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands. [email protected]

PMID: 11788682
DOI: 10.1210/jcem.87.1.8136

Abstract

A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

MeSH terms

Adult
Alleles*
Codon
Drosophila Proteins*
Exons
Humans
Lip / pathology
Male
Multiple Endocrine Neoplasia Type 2b / genetics*
Multiple Endocrine Neoplasia Type 2b / pathology
Multiple Endocrine Neoplasia Type 2b / surgery
Mutation*
Neurilemmoma / genetics*
Neurilemmoma / pathology
Pedigree
Phenotype
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases / genetics*
Thyroid Neoplasms / genetics*
Thyroid Neoplasms / pathology
Thyroidectomy
Tongue / pathology

Substances

Codon
Drosophila Proteins
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
Ret protein, Drosophila