April 27, 2009

Multiple Endocrine Neoplasia


1) What is it?

- Subgroup of multiple endocrines hyper functions (adenoma or hyperplasia) from mechanisms other than a primary abnormality in the hypothalamic-pituitary axis.


2) Types of MEN


a) MEN 1 (Wermer Syndrome) -4P’

- Parathyroid hyperplasia

- Pituitary adenoma

- Pancreatic adenoma

- With/out PUD (H. Pylori associated Gastritis)


b) MEN 2A (Sipple syndrome)

- Medullary thyroid CA

- Pheochromocytoma

- Parathyroid hyperplasia


c) MEN 2B (mucosal neuroma syndrome)

- Medullary thyroid CA

- Pheochromocytoma

- Mucosal ganglioneuromatosis

- Marfanoid habitus


3) Pathophysiology


- MEN 2A , MEN 2B and familial MTC are autosomal dominant due to germ-line mutation in the RET proto-oncogene located in chromosomes 10 , band q11.2 which codes for a receptor-like tyrosine kinase.

- This mutation convert RET into a dominant transforming gene with oncogenic activity.

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