MEN2A - Sipple Syndrome

Question 1

what is it?

Answer 1

A genetic condition which increases the risk of tumours in endocrine glands across the body
Combination of medullary thyroid cancer in association with phaeochromocytoma and parathyroid tumours

Question 2

what is a phaeochromocytoma?

Answer 2

• Phaeochromocytoma (40-50%), Medullary thyroid carcinoma (100%), parathyroid hyperplasia (10-20%)
• Phaeochromocytoma may be bilateral and occur at extra-adrenal sites
• Linked to germline gain of function mutation in RET oncogene on chromosome 10q11.2 (ie constitutively activated)