VOLUME 16 - NUMBER 5 / September-October (Clinical case / Caso clínico)
Vera Eunice Robles-Pérez, Department of Surgical Oncology, Hospital Regional 1° de Octubre, ISSSTE, Mexico City, Mexico
Jeannette Liliana Córdova-López, Department of Pediatric Cardiology, Hospital Pediátrico de Azcapotzalco, SS CDMX, Mexico City, Mexico
Carlos Alejandro Hernández-González, Department of Pathology, Hospital Regional 1° de Octubre, ISSSTE, Mexico City, Mexico
Jorge Alberto Medina-Medina, Department of General Surgery, Hospital Regional 1° de Octubre, ISSSTE, Mexico City, Mexico
Víctor Hugo Ramos-Cano, Department of Cardiovascular Surgery, Hospital Juárez de México, SS, Mexico City, Mexico
Eurídice Robles-Pérez, Department of Thoracic Surgery, Hospital Juárez de México, SS, Mexico City, Mexico
Multiple endocrine neoplasia IIA, also known as Sipple syndrome, is a rare entity, difficult to diagnose and potentially fatal, caused by RET proto-oncogene mutations. The importance of diagnosis and determination of this mutation in the patient and their consanguineous relatives lies in avoiding the appearance of medullary thyroid cancer by prophylactic thyroidectomy and the follow up before development of pheochromocytoma and/or parathyroid adenoma. We present the case of an asymptomatic patient with a tail gut cyst 634 AGC (Cys 634 Arg) mutation who was diagnosed with medullary thyroid carcinoma, bilateral pheocromocytoma, family history of deaths from thyroid and adrenal tumors who was treated for curative purposes and in whom the diagnosis was suspected through screening studies.
Keywords: Multiple endocrine neoplasia IIa. Medullary thyroid carcinoma. Pheochromocytom. Proto-ongogen-RET.
