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

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
what should be considered for treatment in MEN2
prophylactic thyroidectomy
26
what should people with MEN2 be screened for
phaeochromocytoma and parathyroid disease
27
what is a monogenetic disorder
single gene aetiology
28
how are monogenetic disorders studied
linkage studies
29
what are the 6 patterns of inheritance of monogenetic disorders
AD, AR, XLD, XLR, Y-linked, mitochondrial
30
what is a polygenic disorder
multiple genes
31
how are polygenic disorders studied
GWAS studies (genome wide assoc. study - looking at large populations)
32
does WGS or WES give more complex info
WGS
33
is WGS or WES cheaper
WES
34
will WGS or WES see non-coding changes
WGS
35
is WGS or WES more targeted approach
WES
36
``` what is the syndrome: axillary freckling cafe-au-lait patches neurofibromas optic gliomas scoliosis learning difficulties iris hamartomas phaeochromocytoma ```
neurofibromatosis type 1
37
what is the inheritance pattern of NF1
autosomal dominant
38
what is the syndrome: bilateral acoustic neuromas multiple intracranial schwannomas, meningiomas and ependymomas
neurofibromatosis type 2
39
what is the inheritance of neurofibromatosis type 2
autosomal dominant