VOLUME 16 - NUMBER 1 / January - February (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 that is difficult to diagnose and potentially fatal and is caused by RET proto-oncogene mutations. The importance of its diagnosis and determination of this mutation in the patient and his/her consanguineous relatives lies in avoiding the appearance of medullary thyroid cancer by means of prophylactic thyroidectomy and follow-up at the appearance of pheochromocytoma or parathyroid adenoma. We present the case of a female asymptomatic patient with the TGC34AGC-Cys634Arg mutation who was diagnosed with medullary thyroid carcinoma and bilateral pheochromocytoma, had a family history of thyroid and adrenal tumor-related deaths, was treated for curative purposes, and in whom the diagnosis was suspected by screening studies.
Keywords: Multiple endocrine neoplasia IIA. Medullary thyroid carcinoma. Pheochromocytoma. RET proto-oncogene.
