title: Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas.
abstract: The frequency and prognostic relevance of RET proto-oncogene somatic mutations in sporadic medullary thyroid carcinoma (MTC) remain controversial. In order to study somatic mutations in the RET proto-oncogene in sporadic MTCs found in the Czech population and to correlate these mutations with clinical and pathological characteristics, we investigated 48 truly sporadic MTCs by sequencing classical risk exons 10, 11, 13, 14, 15 and 16. From the 48 tumors studied, 23 (48%) had somatic mutation in the RET proto-oncogene in exons 10, 11, 15 or 16. The classical somatic mutation Met918Thr in exon 16 was only found in 13 tumors (27%). In five cases, multiple somatic mutations and deletions were detected. A statistically significant correlation between the presence of somatic mutation with more advanced pathological TNM stages was observed. Other clinical and pathological characteristics did not show any statistical significant association with the presence or absence of somatic mutation.
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic. sarka@obloha.cz
authors.forename: S
authors.initials: S
authors.lastname: Dvorakova
authors.forename: E
authors.initials: E
authors.lastname: Vaclavikova
authors.forename: V
authors.initials: V
authors.lastname: Sykorova
authors.forename: J
authors.initials: J
authors.lastname: Vcelak
authors.forename: Z
authors.initials: Z
authors.lastname: Novak
authors.forename: J
authors.initials: J
authors.lastname: Duskova
authors.forename: A
authors.initials: A
authors.lastname: Ryska
authors.forename: J
authors.initials: J
authors.lastname: Laco
authors.forename: J
authors.initials: J
authors.lastname: Cap
authors.forename: D
authors.initials: D
authors.lastname: Kodetova
authors.forename: R
authors.initials: R
authors.lastname: Kodet
authors.forename: L
authors.initials: L
authors.lastname: Krskova
authors.forename: P
authors.initials: P
authors.lastname: Vlcek
authors.forename: J
authors.initials: J
authors.lastname: Astl
authors.forename: D
authors.initials: D
authors.lastname: Vesely
authors.forename: B
authors.initials: B
authors.lastname: Bendlova
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000628:therapy; D015331:Cohort Studies; D018153:Czech Republic / Q000453:epidemiology; D005091:Exons; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D010641:Phenotype; D011379:Prognosis; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human