title: [Usefulness of the genetic study in the diagnosis of medullary carcinoma of the thyroid].
abstract: Germ-line mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A) and with familial medullary thyroid carcinoma (FMTC). Detection of these mutations allows the identification of the affected kindred members, who will develop medullary thyroid carcinoma (MTC) in 100% of cases. We studied 24 patients of two kindreds (MEN 2A and FMTC). Basal calcitonin levels and pentagastrin-stimulated calcitonin were measured in all patients. The RET mutations were detected by DNA analysis. The RET mutations were identified in 14 patients. Two of them had been operated in the past, 2 refused operation and 4 were living abroad. In the 6 remaining, only one showed a thyroid mass, basal calcitonin was normal in all patients except one, and pentagastrin-stimulated calcitonin was negative in 2 patients. Total thyroidectomy was performed in all cases. Histology showed C-cell hyperplasia in all patients and MTC in 5 of them. In MEN 2A and FMTC DNA analysis allows the identification of RET mutation carriers, in which presymptomatic thyroidectomy allows and improvement in survival.
authors.affiliation: Servicio de Cirugía General y Digestiva, Hospital Príncipes de España, CSU Bellvitge, Universidad de Barcelona.
authors.forename: A
authors.initials: A
authors.lastname: Rafecas
authors.forename: Y
authors.initials: Y
authors.lastname: Ribas
authors.forename: C
authors.initials: C
authors.lastname: Villabona
authors.forename: M
authors.initials: M
authors.lastname: Viladrich
authors.forename: J
authors.initials: J
authors.lastname: Figueras
authors.forename: J
authors.initials: J
authors.lastname: Fabregat
authors.forename: J
authors.initials: J
authors.lastname: Torras
authors.forename: J M
authors.initials: JM
authors.lastname: Gómez
authors.forename: E
authors.initials: E
authors.lastname: Jaurrieta
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics*