Genetics

Question 1

What are the two types of multiple endocrine neoplasia?

Answer 1

MEN1

MEN2A and 2B

Question 2

Describe MEN1?

Answer 2

autosomal dominant

classic tumour suppressor - MEN1-11q gene

Question 3

What does MEN1 cause?

Answer 3

parathyroid adenomas
pituitary adenomas
pancreatic tumours

Question 4

Describe MEN2?

Answer 4

autosomal dominant
RET-10q gene
classic proto-oncogene

Question 5

What does MEN2a cause?

Answer 5

parathyroid hyperplasia
medullary thyroid carcinoma
pheochromocytoma

Question 6

What does MEN2b cause?

Answer 6

mucosal neuromas
marfan syndrome
medullary thyroid cancer
pheochromocytoma

Question 7

How is MEN2 treated?

Answer 7

prophylactic thyroidectomy

Question 8

What is Von-Hippel Lindau syndrome?

Answer 8

mutation in the VHL gene
autosomal dominant
leads to the accumulation of HIF proteins and stimulation of cellular proliferation

Question 9

What does VHL syndrome cause?

Answer 9

vascular tumours e.g. CNS haemangioblastomas

Question 10

What is the Carney complex?

Answer 10

mutation in PRKARIA which causes uncontrolled proliferation

Question 11

What does the Carney complex cause?

Answer 11

PPNAD which causes adrenal glands to produce excess cortisol which leads to cushings, cardiac myxoma and thyroid carcinoma

Question 12

What is the McCune Albright syndrome?

Answer 12

GNAS mutation

Question 13

What does the McCune Albright syndrome cause?

Answer 13

cafe au lait skin
precocious puberty
polyostotic fibrous dysplasia
GH excess 
cushings 
thyroid nodules