Mulitiple Endocrine Neoplasia Type 2(MEN2) Flashcards

1
Q

what type of MEN2 is more common

A

MEN2A makes up 90-95% cases

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2
Q

what are the different types of MEN2

A

MEN2A and MEN2B(sometimes called MEN3)

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3
Q

what does MEN2A describe

A

combination of medullary thyroid cancer(MTC) associated with phaeochromocytoma and parathyroid tumours

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4
Q

what does MEN2B describe

A

MTC and phaeochromocytoma associated with marfanoid habitus, mucosal neuromas, medullated corneal fibres, intestinal autonomic ganglion dysfunction

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5
Q

what is a phaeochromocytoma

A

a rare adrenaline secreting tumour(chromaffinoma) of inner part of the adrenal gland or similar tissue elsewhere

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6
Q

what gene is mutated in MEN2A and MEN2B

A

RET gene

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7
Q

what is typically the first presentation in MEN2

A

medullary thyroid cancer(MTC)

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8
Q

what are the signs/symptoms of MTC

A

neck mass, diarrhoea and flushing(metastatic disease), ectopic ACTH and Cushing’s

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9
Q

what investigations are used to investigate and diagnose MTC

A

neck USS and FNA, measurement basal serum calcitonin, imaging to detect spread

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10
Q

briefly describe what the treatment for MTC involves

A

thyroidectomy and lymph dissection, dependant on spread of disease
depending on type of RET mutation/risk then thyroidectomy carried out sooner

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11
Q

what does the age of onset/timing of MTC in MEN2 indicate

A

type of RET mutation

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12
Q

at what stages in life does MTC present in highest, high and moderate risk RET mutations

A
highest = MTC in first few years of life
high = median age diagnosis between 20-25
moderate = median age 42
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13
Q

what treatment opportunity is there for some RET mutation carriers

A

prophylactic thyroidectomy, to prevent MTC developing

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14
Q

how often does phaeochromocytoma and hyperparathyroidism occur in MEN2

A
phaemochromocytoma = 40-50%
hyperparathyroidism = ~30%
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15
Q

describe the diagnosis and treatment of phaeochromocytoma

A
diagnosis = elevated urinary or plasma metanephrines
treatment = surgical
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16
Q

describe the need for treatment of phaeochromocytomas in MEN2

A

usually benign but associated with morbidity and mortality if left untreated

17
Q

what is involved in the treatment of hyperparathyroidism

A

surgical removal of overactive/enlarged parathyroid glands