Multiple Endocrine Neoplasia

Question 1

def

Answer 1

hormone-producing tumours in multiple organs

Question 2

what is the inheritance pattern of MEN

Answer 2

autosomal dominant

Question 3

what are the different types of MEN

Answer 3

MEN 1
MEN 2a
MEN 2b

Question 4

what is neurofibromatosis

Answer 4

a form of MEN

tumours grow along the nerves

Question 5

what is von-hippel-lindau syndrome

Answer 5

a form of MEN
tumours (benign or malignant) form in the CNS and viscera
1 retinal or CNS haemangioblastomas (tumours CNS which originate from the vascular system)
2 renal cell carcinoma
3 renal cysts
4 phaeochromocytoma

Question 6

what is peutz-jeghers syndrome

Answer 6

a form of MEN
characterised by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition

Question 7

what is MEN 1

Answer 7

1 parathyroid hyperplasia/adenoma (95%, mostly increase Ca)
2 pancreatic tumours (gastrinoma or insulinoma)
3 pituitary adenoma (prolactinoma or GH secreting tumour - acromegaly)

Question 8

when does MEN 1 commonly present

Answer 8

young adult, but often not diagnosed until middle age

Question 9

what is MEN 2a

Answer 9

1 thyroid : medullary thyroid carcinoma (100%)
2 Adrenal: phaeochromocytoma (bilateral)
3 Parathyroid hyperplasia

Question 10

what is MEN 2b

Answer 10

1 thyroid : medullary thyroid carcinoma
2 Adrenal: phaeochromocytoma (bilateral)
3 mucosal neuromas
4 marfanoid appearance

Question 11

aetiology of MEN 1

Answer 11

MEN1 gene (tumour-suppressor) mutations

Question 12

aetiology of MEN 2a/b

Answer 12

RET proto-oncogene mutations

Question 13

on which chromosome is the MEN1 gene mutation

Answer 13

11q13

Question 14

on which chromosome is the MEN2 gene mutation

Answer 14

10q11.2

Question 15

epi

Answer 15

rare

Question 16

history of MEN 1

Answer 16

common to present in young adults
1 parathyroid hyperplasia/adenoma (present with stones, bones, abdominal groans and psychiatric moans)
2 pancreatic tumours: gastrinoma (increased acid production leading to abdominal pain by a peptic ulcer + bleeding, indigestion (GORD) + diarrhoea) or insulinoma (double or blurred vision, weakness, sudden weight gain)
3 pituitary adenoma (bitemporal hemianopia due to compression of the optic chiasm, thyrotoxicosis): prolactinoma (irregular menses or infertility), GH secreting tumour (acromegaly)

Question 17

history of MEN 2a

Answer 17

1 thyroid : medullary thyroid carcinoma (hoarseness, swelling, breathing difficulty and cough)
2 Adrenal: phaeochromocytoma (headaches, palpitations, sweating)
3 Parathyroid hyperplasia (stones, bones, abdominal groans, psychiatric moans)

Question 18

history of MEN 2b

Answer 18

1 thyroid : medullary thyroid carcinoma (hoarseness, swelling, breathing difficulty and cough)
2 Adrenal: phaeochromocytoma (headaches, palpitations, sweating)
3 mucosal neuromas (swellings on the lips or the tongue)
4 marfanoid appearance

Question 19

examination of MEN 1

Answer 19

1 parathyroid hyperplasia/adenoma (features of present with stones, bones, abdominal groans and psychiatric moans)
2 pancreatic tumours (gastrinoma or insulinoma)
3 pituitary adenoma (prolactinoma or GH secreting tumour - acromegaly) (features of acromegaly or thyrotoxicosis)

Question 20

examination of MEN 2b

Answer 20

1 thyroid : medullary thyroid carcinoma (mass in the neck)
2 Adrenal: phaeochromocytoma (HTN, rapid HR)
3 mucosal neuromas (swellings on lips and tongue)
4 marfanoid appearance

Question 21

examination of MEN 2a

Answer 21

1 thyroid : medullary thyroid carcinoma (mass in the neck)
2 Adrenal: phaeochromocytoma (HTN, rapid HR)
3 Parathyroid hyperplasia (features of stones, bones, abdominal groans, psychiatric moans)

Question 22

investigations of MEN 1

Answer 22

1 parathyroid hyperplasia/adenoma (raised PTH and Ca)
2 pancreatic tumours: gastrinoma (raised gastrin) or insulinoma (raised insulin)
3 pituitary adenoma: prolactinoma (raised prolactin) or GH secreting tumour (raised GH)

Question 23

investigations of MEN 2a

Answer 23

1 thyroid : medullary thyroid carcinoma (raised calcitonin or raised CEA suggests MTC)
2 Adrenal: phaeochromocytoma (raised metanephrines)
3 Parathyroid hyperplasia (raised PTH and Ca)

Question 24

investigations for MEN 2b

Answer 24

1 thyroid : medullary thyroid carcinoma (raised calcitonin or raised CEA suggests MTC)
2 Adrenal: phaeochromocytoma (raised metanephrines)
3 mucosal neuromas
4 marfanoid appearance