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year 2 > MEN > Flashcards

MEN Flashcards

1
Q

what is the inheritance pattern of MEN1

A

autosomal dominant

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2
Q

what is the affected gene in MEN1

A

MEN1 gene - 11q

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3
Q

what kind of gene is the MEN1 gene

A

classic tumour suppressor

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4
Q

what causes MEN1 syndrome

A

Bi-allelic inactivation and loss of heterozygosity

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5
Q

where do the mutations occur in MEN1

A

throughout the coding region of MEN1 gene

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6
Q

what kind of mutation is seen in MEN1

A

loss of/reduced protein function

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7
Q

is there phenotype/genotype correlation in MEN1?

A

no

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8
Q

what are the features of MEN1

A

Enteropancreatic tumours
Bronchial Carcinoid
Pituitary adenoma
parathyroid hyperplasia

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9
Q

what are some enteropancreatic tumours seen in MEN1

A

gastrinoma
insulinoma
glucagonoma
VIPoma

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10
Q

what would some features be of a glucagonoma

A 
migrating rash
glossitis
chelitis
anaemia
weight loss
increased plasma glucagon
increased glucose
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11
Q

what % of people will die as a result of MEN1

A

50%

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12
Q

what are the main causes of death in MEN1

A

malignant pancreatic neuroendocrine tumour

thymic carcinoids

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13
Q

what is the inheritance pattern of MEN2

A

autosomal dominant

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14
Q

what is the affected gene in MEN2

A

RET gene - 10q 11.2

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15
Q

what kind of gene is the RET gene

A

classic proto-oncogene

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16
Q

what kind of mutation is seen in MEN2

A

germline gain of function mutation

17
Q

is there a phenotype/genotype correlation in MEN2

A

yes

18
Q

where do the mutations occur in the RET gene

A

limited to specific codons

19
Q

what do the mutations in MEN2 cause

A

affect specific cysteine residues which results in activation of receptor tyrosine kinase

20
Q

what is another name for MEN2A

A

sipple syndrome

21
Q

what are the features of MEN2A

A

phaeochromocytoma (may be bilateral and extra-adrenal)
medullary thyroid carcinoma (100%)
parathyroid hyperplasia

22
Q

what are the features of MEN2B

A 
phaeochromocytoma
medullary thyroid carcinoma
mucosal neuromas/ganglioneuromas
marfanoid habitus
hyperparathyroidism
23
Q

what are mucosal neuromas/ganglioneuromas

A

bumps on lips, cheeks, tongue, epiglottis, eyelids

visible corneal nerves

24
Q

in MEN2B what is the mutation almost always

A

activating point mutation in catalytic domain of encoded enzyme

25
Q

what should be considered for treatment in MEN2

A

prophylactic thyroidectomy

26
Q

what should people with MEN2 be screened for

A

phaeochromocytoma and parathyroid disease

27
Q

what is a monogenetic disorder

A

single gene aetiology

28
Q

how are monogenetic disorders studied

A

linkage studies

29
Q

what are the 6 patterns of inheritance of monogenetic disorders

A

AD, AR, XLD, XLR, Y-linked, mitochondrial

30
Q

what is a polygenic disorder

A

multiple genes

31
Q

how are polygenic disorders studied

A

GWAS studies (genome wide assoc. study - looking at large populations)

32
Q

does WGS or WES give more complex info

A

WGS

33
Q

is WGS or WES cheaper

A

WES

34
Q

will WGS or WES see non-coding changes

A

WGS

35
Q

is WGS or WES more targeted approach

A

WES

36
Q 
what is the syndrome:
axillary freckling
cafe-au-lait patches
neurofibromas
optic gliomas
scoliosis
learning difficulties
iris hamartomas
phaeochromocytoma
A

neurofibromatosis type 1

37
Q

what is the inheritance pattern of NF1

A

autosomal dominant

38
Q

what is the syndrome:
bilateral acoustic neuromas
multiple intracranial schwannomas, meningiomas and ependymomas

A

neurofibromatosis type 2

39
Q

what is the inheritance of neurofibromatosis type 2

A

autosomal dominant

year 2 (19 decks)

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