ECE2014 Poster Presentations Endocrine tumours and neoplasia (99 abstracts)
Introduction: Multiple endocrine neoplasia (MEN) are rare including MEN1:association of pituitary, pancreatic and parathyroid tumors and MEN 2 regrouping NEM2a: medullary thyroid cancer (MTC), pheochromocytoma and parathyroid tumor and NEM2b with ganglioneuromas. Theyre caused by autosomal dominant mutation: MEN1 gene (MEN 1) and RET protooncogen (MEN 2).
Aim: Report the phenotypic and evolutionary characteristics of MEN.
Population and methodology: 28 patients with MEN were hospitalized from 1981 to 2013. All patients received a guided exploration and molecular study for NEM 2.
Results: A preponderance of MEN2 (n:20) is observed. In the eight MEN1s cases, median age=41 years, first manifestation was pituitaty adenoma in 50%, following by hyperparathyroidism 37.5% and one case of cervical mass. Five of them seem have a sporadic form and three have familial antecedent of MEN1.The association hyperparathyroidism+pituitary adenoma was observed in 75% of the cases associated to: pancreatic (12.5%),adrenal tumor (25%), digestive carcinoid (12.5%), paraganglioma (25%).The pituitary adenoma was equally a prolactinoma (33.33%) or a non functional pituitary adenoma, a somatotrop (16.66%) and a gonadotrop adenoma (16.66%).Hyperparathyroidism was constant, caused by a unique adenoma (25%) or hyperplasia (12.5%),management of the others in progress. In 20 MEN2 cases, we note three sporadic ones and 17 organised in three families, median age was 35.35, first manifestation: MTC (60%), phéochromocytoma (40%).The phenotype was complete in 35%, partial in 65% with a correlation genotypephenotype in four families that express 634 mutation of RET gene. The circumstances of discovery was a cervical mass in 20%, high blood pressure 35% and a clinical screening 45%. We note a remission after management in only 35.7% of MEN1 patients and 40% of MEN2s.
Conclusion: MEN 1 and 2 are rare. We observed a preponderance of the MEN2. The molecular genetic testing should be extended to all of the MEN families to facilitate the management of these patients in a multidisciplinary approach.