MEN syndromes Flashcards
1
Q
Describe MEN syndromes?
A
- Autosomal dominant
- Hyperplasia and malignant tumours in multiple glands
- Hormone-producing
2
Q
Describe MEN-1 syndrome?
A
- 3Ps
- Pituitary tumours
- Primary hyperparathyroidism
- Pancrease endocrine tumours
- Gastrinoma, insulinoma, non-functioning
- Also bronchial/thymic carcinoids, cutaneous lesions
3
Q
Describe the MEN-1 gene?
A
- MEN1 gene
- Tumour suppressor gene
- Chromosome 11
4
Q
Describe MEN-2a syndrome?
A
- 2Ps, 1M
- Phaeochromocytoma
- Primary hyperparathyroidism
- Medullary thyroid carcinoma
5
Q
Describe MEN-2b syndrome?
A
- Phaeochromocytoma
- Medullary thyroid cancer (occurs earlier than 2a)
- Mucosal neuromas
- Marfanoid appearance
- No hyperparathyroidism
6
Q
What do mucosal neuromas consist of?
A
- Bumps on:
- Lips, tongue, cheeks, eyelids
- Visible corneal nerves
7
Q
Describe the gene invovled in MEN-2a and 2b?
A
- Ret proto-oncogene
- Gain of function mutation
- Chromosome 10
- Hirschsprung’s disease is a loss of function mutation of the same gene
8
Q
Describe the management of MEN-2 syndromes?
A
- Tests for ret mutations for diagnosis
- Thyroidectomy before neoplasia occurs
- Usually before 3 years old
9
Q
Signs of somatostatinoma?
A
- DM
- Steatorrhoea
- Gallstones/cholangitis
10
Q
Signs of glucagonomas?
A
- Anaemia
- Weight loss
- Hyperglycaemia
- High plasma glucagon
- +/- glucagon syndrome:
- migrating rash, glossitis, chellitis
11
Q
What are the autosomal dominant inherited tumour disorders?
A
- MEN syndromes
- Neurofibromatosis
- Von-Hippel Lindau syndrome
- Peutz-Jeghers syndromes
- Carney complex
12
Q
Describe neurofibromatosis?
A
- Genetic disorder that causes tumours to form on neural tissue
- Autosomal dominant inheritance
- Type 1 and 2
13
Q
What is Wermer’s syndrome?
A
MEN 1
14
Q
When is Sipple’s syndrome?
A
MEN 2 / MEN 2a
15
Q
What is MEN2b?
A
MEN 3
