Multiple Endocrine Neoplasia -Quick review card

MULTIPLE ENDOCRINE NEOPLASIA - Syndromes of rare inherited disorders in which more than 1 endocrine glands develop benign or malignant tumours or grow excessively without forming tumors

MEN 1 - autosomal dominant disorder multiple hormone secreting tumours , hormone non-secreting tumours and non-endocrine tumours mutations in the tumour suppressor gene MEN1 which encodes menin menin looses its tumour suppressor function

Principal endocrine glands affected are parathyroids ( primary hyperparathyroidism as the initial presentation in 90 % to 100 % cases ) neuroendocrine tumors of the GEP tract ( GEp-NETs which is gastro-entero-pancreatic neuroendocrine tissues ) adenomas of anterior pituitary

autosomal dominant inheritance tumors of the C cells of the thyroid , of the adrenal medulla and parathyroid glands mutation in the RET protooncogenes on chromosome 10 which codes for the tyrosine kinase receptor clinical manifestation medullary thyroid carcinoma( MTC ) , pheochromocytoma and in case of MEN2A primary hyperparathyroidism

MEN2 includes following phenotypes MEN 2 A ( subclassified into classical MEn2A , MEN2A with cutaneous lichen amyloidosis , MEN2A with Hirschsprung's disease , Familial medullary thyroid cancer ) MEN 2 B ( more aggressive form )Adrenal gland affected 50 % cases , parathyroid in20 % cases and thyroid almost all...