Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.
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.
Menko
Fred H
FH
Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands. fh.menko.humgen@med.vu.nl
van der Luijt
Rob B
RB
de Valk
Irene A J
IA
Toorians
Arno W F T
AW
Sepers
Jan M
JM
van Diest
Paul J
PJ
Lips
Cornelis J M
CJ
D000328:Adult; D000483:Alleles; D003062:Codon; D029721:Drosophila Proteins; D005091:Exons; D006801:Humans; D008046:Lip / Q000473:pathology; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D013965:Thyroidectomy; D014059:Tongue / Q000473:pathology
D003062:Codon; D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila