Genetics

Question 1

Which gene is affected in MEN 1?

Answer 1

MEN1 tumour suppressor gene (11q)

Question 2

Which gene is affected in MEN 2?

Answer 2

RET oncogene

Question 3

Von-Hippel-Lindau syndrome is caused by mutation in which gene?

Answer 3

VHL gene (accumulation of HIF proteins)

Question 4

What are the clinical features of MEN 1?

Answer 4

Pituitary adenoma
Parathyroid adenoma
Pancreatic endocrine tumours

Question 5

What are the clinical features of MEN 2A?

Answer 5

Parathyroid hyperplasia
Medullary thyroid carcinoma
Phaemochromocytoma

Question 6

What are the clinical features of MEN 2B?

Answer 6

Muscosal neuromas
Marfanoid body habitus
Medullary thyroid carcinoma
Phaechromocytoma

Question 7

Which gene is affected in Carney Complex?

Answer 7

PRKARIA (disrupts PKA signalling)

Question 8

List the clinical features of Carney Complex

Answer 8

Spotty skin
Excess cortisol (hyperpigmented skin/ Cushings)
Acromegaly
Thyroid carcinoma
Blue navus

Question 9

Which gene is affected in McCune Albright syndrome?

Answer 9

GNAS1 (affects cAMP signalling)

Question 10

List the clinical features of McCune Albright syndrome

Answer 10

Cafe-au-lait skin
Fibrous dysplasia
Precocious puberty
Thyroid nodules
Pituitary (GH excess, cushings syndrome)

Question 11

List the clinical features of VHL syndrome

Answer 11

Retinal/ear/CNS/lung/kidney/epididymis or broad ligament tumours or cysts
Phaechromocytoma

Question 12

Which gene is affected in neurofibromatosis type 1?

Answer 12

NF1

Question 13

List the clinical features of NF1

Answer 13

Axillary freckling
Cafe-au-lait patches
Neurofibromas
Optic gliomas
Scoliosis
Phaechromocytoma
Learning difficulties
Tibial bowing