Multiple Endocrine Neoplasia Flashcards
def
hormone-producing tumours in multiple organs
what is the inheritance pattern of MEN
autosomal dominant
what are the different types of MEN
MEN 1
MEN 2a
MEN 2b
what is neurofibromatosis
a form of MEN
tumours grow along the nerves
what is von-hippel-lindau syndrome
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
what is peutz-jeghers syndrome
a form of MEN
characterised by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition
what is MEN 1
1 parathyroid hyperplasia/adenoma (95%, mostly increase Ca)
2 pancreatic tumours (gastrinoma or insulinoma)
3 pituitary adenoma (prolactinoma or GH secreting tumour - acromegaly)
when does MEN 1 commonly present
young adult, but often not diagnosed until middle age
what is MEN 2a
1 thyroid : medullary thyroid carcinoma (100%)
2 Adrenal: phaeochromocytoma (bilateral)
3 Parathyroid hyperplasia
what is MEN 2b
1 thyroid : medullary thyroid carcinoma
2 Adrenal: phaeochromocytoma (bilateral)
3 mucosal neuromas
4 marfanoid appearance
aetiology of MEN 1
MEN1 gene (tumour-suppressor) mutations
aetiology of MEN 2a/b
RET proto-oncogene mutations
on which chromosome is the MEN1 gene mutation
11q13
on which chromosome is the MEN2 gene mutation
10q11.2
epi
rare
history of MEN 1
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)
history of MEN 2a
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)
history of MEN 2b
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
examination of MEN 1
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)
examination of MEN 2b
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
examination of MEN 2a
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)
investigations of MEN 1
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)
investigations of MEN 2a
1 thyroid : medullary thyroid carcinoma (raised calcitonin or raised CEA suggests MTC)
2 Adrenal: phaeochromocytoma (raised metanephrines)
3 Parathyroid hyperplasia (raised PTH and Ca)
investigations for MEN 2b
1 thyroid : medullary thyroid carcinoma (raised calcitonin or raised CEA suggests MTC)
2 Adrenal: phaeochromocytoma (raised metanephrines)
3 mucosal neuromas
4 marfanoid appearance
