Men Syndrome Flashcards
What are different types of MEN syndrome?
Men 1, Men 2a, Men 2b
What is MEN 1?
autosomal dominant inheritance of an inactivating mutation of the tumour suppressor gene: MEN 1
What are symptoms of MEN 1?
- Parathyroid
- Pancreatic: peptic ulcers
- Pituitary: low libido, mass effect
- Others (e.g. carcinoid, adrenal, thyroid)
What investigations are used for MEN 1?
CT/MRI (whole body), genetics
What is the most common presenting feature of MEN 1?
HYPERCALCAEMIA (due to hyperPTH from parathyroid adenoma/hyperplasia)
What is MEN 2?
Autosomal dominant inheritance of activating mutations of the proto-oncogene RET
What is MEN 2 characterised by?
by having medullary carcinomas
What are symptoms of MEN 2A?
- Parathyroid
2. Phaeochromocytoma
When do MEN syndromes present?
- Both MEN 2A and 2B present later in life than MEN 1 (50-70)
- MEN 2A>MEN2B
What are symptoms of MEN 2B?
- Phaeochromocytoma
- Neuromas
- Marfanoid habitus: e. high-arched palate, pectus excavatum, scoliosis, etc
What are investigations for MEN 2A and 2B?
- Genetic testing (RET oncogene)
- Calcitonin
- Urine catecholamines
- CT/MRI
What tumours is MEN 1 associated with?
- Pituitary adenoma
- Parathyroid hyperplasia
- Pancreatic tumours
What tumours in MEN 2A associated with?
- Parathyroid hyperplasia
- Medullary thyroid carcinoma
- Phaechromocyttoma
What tumours in MEN 2B associated with?
- Mucosal neuromas
- Marfanoid body habitus
- Medullary thyroid carcinoma
- Pheochromocyttoma
What are serum levels in MEN 1?
high PTH and v high Ca2+