MEN 2B

Question 1

what is it?

Answer 1

A genetic condition which increases the risk of tumours in endocrine glands across the body – more aggressive than MEN2A
MTC and phaeochromocytoma in association with a marfanoid habitus, mucosal neuromas, medullated corneal fibres, intestinal autonomic ganglion dysfunction

Question 2

phaeochromocytoma

Answer 2

Phaeochromocytoma, Medullary thyroid carcinoma, neuromas or ganglioneuromas, marfanoid habitus

Also linked to germline mutation in RET oncogene – distinct from 2A mutations and almost always activating point mutation in the catalytic domain of the encoded enzyme.