title: Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica.
abstract: Background. Activating mutations in theRETgene leads to medullary thyroid carcinoma (MTC). Guidelines encourage performingRETanalysis in subjects with hereditary and sporadic disease.Materials and Methods.Design. Observational, case series report study.Patients. Subjects diagnosed with MTC, with a thyroidectomy performed in a single center in Costa Rica between the years 2006 and 2015.Diagnosis and Follow-Up. Pre- and postoperative calcitonin,RETmutation, and neck ultrasound and tomography were obtained.Results. 21 subjects with histological diagnosis of MTC were followed up. The average age at diagnosis was 52.0 ± 15.7 years. The preoperative mean value of calcitonin was 1340 ± 665 pg/mL. Evidence ofRETmutation was found in 26.3% of the patients, with only 2 of them grouped in the same kindred. We found statistically significant differences in mean ages between mutated (38.4 ± 20.2 y) versus nonmutatedRET gene(54.6 ± 11.8 y,p= 0.04). There were no significant differences regarding tumor size, metastases, and surgical reintervention.Conclusions. We report the results ofRETmutation analysis in subjects with MTC in a single center of Costa Rica. The availability of this tool increases the probability of identifying familial MTC, with the benefit of detecting affected subjects and their relatives at an earlier age.
authors.affiliation: Division of Endocrinology, Department of Internal Medicine, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
authors.forename: Javier
authors.identifier: 0000-0001-9564-0016
authors.initials: J
authors.lastname: Calvo
authors.affiliation: Neuromodulation Center, Spaulding Rehabilitation Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Torrealba
authors.affiliation: Division of Endocrinology, Department of Internal Medicine, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
authors.forename: Adriana
authors.initials: A
authors.lastname: Sáenz
authors.affiliation: Laboratory of Molecular Biology, National Children Hospital, San José, Costa Rica.
authors.forename: Carlos
authors.initials: C
authors.lastname: Santamaría
authors.affiliation: Laboratory of Molecular Biology, National Children Hospital, San José, Costa Rica.
authors.forename: Estela
authors.initials: E
authors.lastname: Morera
authors.affiliation: Division of Endocrinology, Department of Internal Medicine, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
authors.forename: Silvia
authors.initials: S
authors.lastname: Alvarado
authors.affiliation: Department of Pathology, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Roa
authors.affiliation: Division of Endocrinology, Department of Internal Medicine, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
authors.forename: Michelle
authors.initials: M
authors.lastname: González