Characterization of Honduran family affected by Multiple Endocrine Neoplasia (MEN-2A), Instituto Nacional Cardio-Pulmonar, Tegucigalpa, Honduras

Abstract

Introduction. Multiple endocrine neoplasia (NEM) are autosomal-dominant clinical syndromes. They are manifested by benign and malignant tumors involving endocrine and non-endocrine organs. Incidence of 1/30,000 people. Objective: To characterize a Honduran family whose members present endocrine tumors, seen at Instituto Nacional Cardiopulmonar (INCP), Tegucigalpa, 2017. Methods. Longitudinal descriptive study. Analysis of clinical, epidemiological and laboratory information, recorded in clinical files and provided by patients, prior informed consent. Confirmation of two cases by genetic studies. Results. Family of 9 children, from Olancho. Mother died of Pancreatic Adenocarcinoma; father without information. Daughter3, index case, underwent total thyroidectomy for Medullary Thyroid Cancer (MTC). Son2 not evaluated. Daughter4, asymptomatic carrier of the proto-oncogene RET mutation. Daughter1 underwent prophylactic thyroidectomy for follicular thyroid hyperplasia and benign lymphatic hyperplasia right in post-auricular nodule. Daughter7 had left parotidectomy for benign Pleomorphic Adenoma. SON5 was diagnosed with multifocal MTC. Daughter9 underwent total thyroidectomy with lymphadenectomy for Multifocal MTC. Sons 6 and 8, living in the United States of America, had adrenalectomy for Pheochromocytoma and total thyroidectomy for Multifocal MTC, respectively. In addition, genetic and molecular tests were done to them and the results demonstrated mutations in Exons 10, 11, 13, 14, 15 and 16 of the proto-oncogene RET, codon 634 with the substitution of the amino acid cysteine by tryptophan (CYS634TRP), confirming NEM-2 A. Discussion. It constitutes the first published work of this pathology in Honduras. We suggest the epidemiological search for NEM in all patients diagnosed with MTC.