multiple endocrine neoplasm syndromes

Question 1

multiple endocrine neoplasia syndromes

Answer 1

a group of uncommon inherited diseases characterised by

• proliferative lesions - hyperplasia, adenomas and carcinomas of multiple endocrine organs
• one gland or multiple glands (can be multifocal)
• tumours occur at a younger age than sporadic tumours
• malignancies are usually more aggressive and recur in a high proportion of cases than sporadic tumours

Question 2

MEN syndromes are inherited by

Answer 2

• autosomal dominant - family follow up important and early prophylactic treatment

Question 3

MEN-1 (Werner syndrome)

Answer 3

loss of tumour suppressor gene 11q13 (menin)

tumours in the parathyroid, pancreas and pituitary (three ps)

Question 4

tumours in MEN1

Answer 4

tumours in the three ps
parathyroid - primary hyperthyroidism (adenoma or hyperplasia) in more MEN-1 patients by age 50
pancreas - neuroendocrine tumours (NET) of endocrine pancreas (adenomas our carcinomas, usually functional, often ppp, gastrin, insulin producing)
pituitary - prolactinomas, less commonly acromegaly

also sdrenocortical adenomas, carcinoid tumours of dispersed neuroendocrine system, thyroid adenomas and lipomas

Question 5

MEN-2

Answer 5

three types, all have medullary thyroid carcinoma as main manifestation
usually due to RET proton-oncogene mutations
MEN-2A - simple syndrome, MTC, adrenal phaeochromocytoma and parathyroid hyperplasia
MEN-2B - MTC and phaeochromocytoma
familial MTC - just MTC