Multiple Endocrine Neoplasia Type 2B (MEN 2B): Relevance of early Diagnosis

DRA ANA VIEITES; DRA GABRIELA SANSO; DRA GLORIA LEVIN; DRA SONIA IORCANSKY; DRA MARTA BARONTINI

Costa do Sauípe

Congreso; XXI REUNION DE LA SOCIEDAD LATINOAMERICANA DE ENDOCRINOLOGIA PEDIATRICA; 2010

SLEP

Multiple endocrine neoplasia Type 2B (MEN 2B),an autosomal dominant syndrome is characterized by peculiar phenotype, aggressive medular thyroid carcinoma (MTC) and pheochromocytoma. Progress in the field of molecular biology and phenotype recognition have enabled early diagnoses substantially improving patients survival. The prolonged life-span of these patients has opened concerns about long-term morbidity, reproductive capacity and future of offspring/s. The aim of this study was to present clinical, biochemical and genetic studies in a group of MEN 2B patients. Seventeen individuals, male 9  females 8 (aged 6-42y), belonging to 14 families were studied. All of them presented the characteristic phenotype and the classical M918T mutation. Twins carriers 7-years old were detected. MTC was present in all index cases and also in the two twins in whom profilactic thyroidectomy was performed. All patients show increased calcitonin levels before thyroidectomy. After surgery calcitonin levels remained high in all of index cases. In two carriers became undetectable after surgery. Six patients died from MTC (range 17-42y).Bilateral pheochromocytoma was present in 5/15 patients. We conclude that genetic screening and early diagnosis is highly recommended to improve the outcome of the disease in affected patients.