Monogenic Endocrine Tumour Syndromes

Question 1

MEN1 is multiple tumours affecting…

Answer 1

parathyroid, pituitary, pancreas

Question 2

genetic of MEN1

Answer 2

autosomal dominant mutation of MEN1 gene located on chr 11

Question 3

MEN2 is a multiple tumour disorder affecting…

Answer 3

medulla thyroid cancer, pheochromocytoma and parathyroid

Question 4

which subtypes are there of MEN2

Answer 4

MEN2a- most common

MEN2b

Question 5

s/s for MEN

Answer 5

1st presentation often adv medullary thyroid cancer (neck mass, flushing)

Question 6

ix for MEN

Answer 6

USS FNA, imaging

bloods: inc calcitonin, urinary metanephrines (MTC)

Question 7

von hippel Lindau poses risk for which cancers

Answer 7

clear cell renal carcinoma, phaechromocytoma

Question 8

NF1 poses risk for which cancers

Answer 8

may cause phaeochromocytoma

Question 9

s/s of NF1

Answer 9

axillary freckling, cafe-au-lait, lisch nodules

Question 10

McCune Albright s/s

Answer 10

cafe-au-lait, bones disease, precocious puberty, thyroid nodules, acromegaly, Cushing’s