[Analysis of mutations in the RET proto-oncogene in patients with medullary thyroid tumor]. / Analiz mutatsii v protoonkogene RET u bol'nykh s medulliarnym rakom shchitovidnoi zhelezy.
Genetika
; 39(6): 847-54, 2003 Jun.
Article
de Ru
| MEDLINE
| ID: mdl-12884527
ABSTRACT
The spectrum of mutations of the RET protooncogene was analyzed in Russian patients with inherited or sporadic medullary thyroid carcinoma (MTC). Four RET exons (11, 13, 15, and 16) were subjected to molecular analysis, and mutations were revealed and identified in 47.4% (9/19) patients with sporadic MTC. In total, six mutations (including three new ones) were observed. The most common mutation affected codon 918 to cause substitution of methionine with threonine and accounted for 31.6% alleles. Analysis of exons 11 and 16 revealed four mutations in patients with inherited multiple endocrine neoplasia type 2 (MEN 2). Mutations were found in each patient. Thyroidectomy was performed in four asymptomatic carriers of RET mutations from three MET 2A families (in two families, affected relatives had bilateral pheochromocytoma). In two patients, analysis of the surgery material revealed MTC microfoci in both lobes of the thyroid gland. The results provide the ground for constructing a bank of genetic information on Russian MTC patients with the clinically verified diagnosis.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Tumeurs de la thyroïde
/
Protéines proto-oncogènes
/
Récepteurs à activité tyrosine kinase
/
Carcinome médullaire
/
Mutation
Limites:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Pays/Région comme sujet:
Asia
/
Europa
Langue:
Ru
Journal:
Genetika
Année:
2003
Type de document:
Article