title: Preventive thyroidectomy in patients with hereditary medullary thyroid carcinoma found heterozygote for mutant RET proto-oncogene.
abstract: The currently available genetic tests for identification of the RET proto-oncogene mutation offer the possibility of prospective successful therapy before the hyperplasia of C-cells evolve to Medullary Thyroid Carcinoma. We present our experience regarding the preventive thyroidectomy of family members with history of Medullary Thyroid Carcinoma, who were found to be heterozygote for mutant RET proto-oncogene. We have retrospectively reviewed 19 members of 6 families with history of Medullary Thyroid Carcinoma, who were heterozygote for mutant RET protooncogene and underwent prophylactic thyroidectomy. All patients included in this series were below twenty years of age. The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them. All patients had undergone total thyroidectomy, while 1 with pheochromocytoma had undergone also left epinephridectomy. Fourteen patients (73.68%) had undergone lymph-nodes resection (in 10 of them the resection was central, in 3 unilateral and in 1 bilateral). Although none of our patients suffered from hyperparathyroidism, 7 parathyroid glands have been also resected from 3 patients, while auto-transfusion has been performed in one. In all patients, preoperative measurement of the calcitonin blood levels before and after stimulation with pentagastrin has been performed.
authors.affiliation: National and Kapodistrian University of Athens Faculty of Nursing, Surgical Nursing Section 18 Kivelis str. 15238 Athens Greece. ekonstan30@yahoo.com
authors.forename: Evangelos
authors.initials: E
authors.lastname: Konstantinou
authors.forename: Konstantinou
authors.initials: K
authors.lastname: Evangelos
authors.forename: Theodoros
authors.initials: T
authors.lastname: Sapsakos Mariolis
authors.forename: Mariolis S
authors.initials: MS
authors.lastname: Theodoros
authors.forename: Theofanis
authors.initials: T
authors.lastname: Fotis
authors.forename: Fotis
authors.initials: F
authors.lastname: Theofanis
authors.forename: Aristotelis
authors.initials: A
authors.lastname: Mitsos
authors.forename: Mitsos
authors.initials: M
authors.lastname: Aristotelis
authors.forename: Stylianos
authors.initials: S
authors.lastname: Restos
authors.forename: Restos
authors.initials: R
authors.lastname: Stilianos
authors.forename: Konstantina
authors.initials: K
authors.lastname: Mamoura
authors.forename: Mamoura
authors.initials: M
authors.lastname: Konstantinia
authors.forename: Aspasia
authors.initials: A
authors.lastname: Soultati
authors.forename: Soultati
authors.initials: S
authors.lastname: Aspasia
authors.forename: Ioannis
authors.initials: I
authors.lastname: Elefsiniotis
authors.forename: Elefsiniotis
authors.initials: E
authors.lastname: Ioannis
authors.forename: George
authors.initials: G
authors.lastname: Kapellakis
authors.forename: Kapellakis
authors.initials: K
authors.lastname: George
mesh_terms: D000293:Adolescent; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000601:surgery*; D018278:Carcinoma, Neuroendocrine; D002648:Child; D005192:Family Health; D006579:Heterozygote; D006801:Humans; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D012189:Retrospective Studies; D013964:Thyroid Neoplasms / Q000235:genetics / Q000601:surgery; D013965:Thyroidectomy
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human