Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica

Javier Calvo,Yolanda Roa,Gabriel Torrealba,Estela Morera,Carlos Santamaría,Michelle González,Silvia Alvarado,Adriana Sáenz

doi:10.1155/2016/9637173

Abstract

Background. Activating mutations in the RET gene leads to medullary thyroid carcinoma (MTC). Guidelines encourage performing RET analysis 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, RET mutation, 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 of RET mutation 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 nonmutated RET 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 of RET mutation 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.

Highlights

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that accounts for only 3% to 5% of all thyroid gland cancers
A germ-line activating mutation in the RET (REarranged during Transfection) protooncogene is reported in most cases of hereditary forms of medullary thyroid carcinoma (MTC) associated with multiple endocrine neoplasia type 2 (MEN 2), and a somatic RET mutation can be present in up to 50% of sporadic forms of MTC [3, 4]
We reported the first clinical characterization of patients with MTC with their respective RET mutation status, from a single center in Costa Rica

Summary

Introduction

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that accounts for only 3% to 5% of all thyroid gland cancers. The groundbreaking discovery that an activating RET mutation is present in subjects with MTC and MEN 2 opened a new chapter in the era of personalized medicine and genetic association studies [6]. Activating mutations in the RET gene leads to medullary thyroid carcinoma (MTC). Subjects diagnosed with MTC, with a thyroidectomy performed in a single center in Costa Rica between the years 2006 and 2015. We report the results of RET mutation 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

Methods

Results

Discussion

Conclusion