title: Mutation of RET proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
abstract: To determine whether patients with medullary thyroid carcinoma (MTC) develop other endocrine neoplasms or their relatives develop MTC, we investigated the mutations in the RET proto-oncogene in patients with multiple endocrine neoplasia type 2B (MEN 2B, N = 1) and sporadic MTC (N = 6). DNA from MTC tissue and the peripheral blood was screened by polymerase chain reaction single-strand conformational polymorphism (PCR-SSCP) analysis of exons 10 and 11. PCR products of exons 13 and 16 were also analyzed by AluI and FokI restriction enzyme digestion methods, respectively, and then sequenced. We did not find structural abnormalities in exon 10 or 11, or at codon 768 in exon 13, but a mutation at codon 918, ATG to ACG, was found in the peripheral blood and the MTC tissue from a patient with MEN 2B. The same mutation was also found in tumor tissue from 2 of 6 patients with sporadic MTC, but not in their peripheral blood.
authors.affiliation: Department of Medicine, Kurume University School of Medicine, Fukuoka, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Migita
authors.forename: Y
authors.initials: Y
authors.lastname: Hiromatsu
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: D
authors.initials: D
authors.lastname: Yang
authors.forename: J
authors.initials: J
authors.lastname: Kameo
authors.forename: A
authors.initials: A
authors.lastname: Jimi
authors.forename: K
authors.initials: K
authors.lastname: Nonaka
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D018276:Carcinoma, Medullary / Q000235:genetics*; D003062:Codon; D005091:Exons; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D009154:Mutation; D010507:Periodicity; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D003062:Codon; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas