Abstract

JARA YORG, JA  and  FACULTAD DE CIENCIAS MEDICAS UNIVERSIDAD NACIONAL DE ASUNCION. Catedra de Patología Médica I et al. Hyperthyroidism, hyperparathyroidism and medullary thyroid carcinoma in patients with positive proto oncogene. An. Fac. Cienc. Méd. (Asunción) [online]. 2015, vol.48, n.1, pp.103-114. ISSN 1816-8949.  https://doi.org/10.18004/anales/2015.048(01)101-114.

ABSTRACT Medullary thyroid cancer (MTC) is a rare malignant epithelial neoplasia derived from the C cells (Parafollicular) and occurs sporadically in 75% of cases or as part of multiple endocrine neoplasia syndrome (MEN) .Approximately 20% - 25% of cases are family forms, which are inherited in an autosomal dominant manner. In them, genetic screening and identification of mutations in the RET proto-oncogene (RPO) in family allows a preventive thyroidectomy. The diagnosis is made by histopathology and clinical history. The family form is due to a germline mutation transmitted by POR. Determining calcitonin is a sensitive marker for CMT and oncology. Prophylactic surgery in children, youth and adults are indicated in MEN 2. In this work, two hyperthyroidism cases were treated with 131I and CMT developed together with primary hyperparathyroidism 5 and 3 years respectively after presented. The first case was diagnosed surgically and two of his sons were positive to the study of RPO, one of which had submitted hyperthyroidism and treated with 131I. Her other children were also studied with his brothers and nephews who had no mutation of the RPO. The two children were positive (one male and one female) were operated in total thyroidectomy. The 38 year old male had presented hyperthyroidism previously and had been treated with a dose of 131 orally three years prior to resolution of the hyperthyroidism presented a nodular goiter post surgically proved a medullary thyroid carcinoma and also their PTH levels were elevated (primary hyperparathyroidism) .Its 17 year old sister also positive for was operated but not presented hyperthyroidism or hyperparathyroidism and postoperative pathology was negative for CMT. Key Words: Medullary thyroid carcinoma, RET proto Oncogene, 131I MIBG, Total thyroidectomy, hyperparathyroidism.

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