Multiple endocrine neoplasia Flashcards
1
Q
What is multiple endocrine neoplasia?
A
Hereditary tumour syndromes of variable neoplastic patterns and characterised by the development of multiple endocrine tumours - Tumours can include parathyroid adenomas, pituitary adenomas, enteropancreatic neuroendocrine tumours, phaeochromocytomas
2
Q
What is the aetiology of multiple endocrine neoplasia?
A
- MEN1 & MEN2 are caused by autosomal-dominant mutations that can be inherited or occur sporadically - MEN1 gene mutations responsible for 80-90% of MEN1 cases - RET proto-oncogene mutations responsible for almost all MEN 2 cases
3
Q
What is the epidemiology of multiple endocrine neoplasia?
A
- Relatively rare MEN 1: - Prolactinomas most common MEN1 pituitary adenoma - 90% pts develop primary hyperparathyroidism by 50 MEN2 - Most cases are MEN2A - Medullar thyroid cancer presents in nearly all genetic carriers of MEN2 by adulthood if not treated with prophylactic thyroidectomy, and is the commonest present feature of MEN2
4
Q
What are the presenting symptoms of multiple endocrine neoplasia?
A
- Young age - Positive family history - Episodic triad of sweating, palpitation, and headache (MEN2) - Visual changes (MEN1) - Unexplained flushing (MEN2) - Weight changes - Abdominal pain - Headache
5
Q
What are the signs of multiple endocrine neoplasia on examination?
A
- Clinical features of kidney stones - Facil angiofibromas or collagenomas (MEN1) - Mucosal neuromas (MEN2B) - Arm span and upper-to-lower-body-segment ratio (MEN2B) - Palpable thyroid nodule (MEN2) - Hypertension
6
Q
What are the investigations for multiple endocrine neoplasia?
A
- Serum calcitonin (MEN2): raised - Serum carcinoembryonic antigen (MEN2): Raised - Serum parathyroid hormone and calcium: raised - Fasting serum gastrin (MEN1): raised - Serum prolactin (MEN1): raised - 24 hour urine urine calcium: low,normal or raised - Thyroid biopsy (MEN2): atypical cells or medullary thyroid cancer
