title: [Prophylactic total thyroidectomy in children and adolescents with genetic mutations in the RET-protooncogene].
abstract: Medullary thyroid cancer (C.M.T.) can be a sporadic form generally in adults or a heredofamilial form where the first symptom appears in pediatric and adolescent age. The hereditary form can be isolated or associated with others endocrine neoplasias of type 2: MEN2a (with or without cutaneous lichen amyloidosis) and MEN2b. The responsible gene of the transmission has been identified in proto-oncogene RET localized on chromosome 10. Point form mutations of this proto-oncogene have been found on exons 10 and 11 in MEN2a and on 16 in MEN2b. In our study on 64 subjects, who belong 11 familiar groups, affected by MEN2a, MEN2b and familiar C.M.T., underwent a genetic research to look for point form mutations of proto-oncogene RET with PCR followed by the analysis of restriction. A genetic mutation has been revealed in 25 subjects: 18 were already known affected by MEN2 and so surgical treated and 7 seemed healthy (mean age 17.4 years, range 10-25). These 7 patients has been undergone clinical research and surgical treatment: a total thyroidectomy associated a lymphectomy of the central compartment. In all cases the histological exam showed C.M.T. moreover a patient had metastasis in lymph nodes of the central compartment. Another had hyperparathyroidism and pheochromocytoma treated with total thyroidectomy, parathyroidectomy and bilateral laparoscopic adrenalectomy. The identification in a very early age of carrier subjects of hill's gene inside an affected family, permits the execution of a prophylactic total thyroidectomy to prevent the C.M.T.. The penetrance of this neoplasia in hereditary form is 100%.
authors.affiliation: Dipartimento di Chirurgica Generale, Università di Pisa, Via Roma, 67, Pisa.
authors.forename: C
authors.initials: C
authors.lastname: Spinelli
authors.forename: M
authors.initials: M
authors.lastname: Puccini
authors.forename: A
authors.initials: A
authors.lastname: Bertocchini
authors.forename: M
authors.initials: M
authors.lastname: Lima
authors.forename: F
authors.initials: F
authors.lastname: Pacini
authors.forename: P
authors.initials: P
authors.lastname: Miccoli
mesh_terms: D000293:Adolescent; D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005820:Genetic Testing; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics / Q000517:prevention & control / Q000601:surgery*; D013965:Thyroidectomy / Q000379:methods
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila
vernacular_title: La tiroidectomia totale profilattica nei bambini e negli adolescenti portatori di mutazioni genetiche nel proto-oncogene RET.