Men Syndrome Flashcards

1
Q

What are different types of MEN syndrome?

A

Men 1, Men 2a, Men 2b

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2
Q

What is MEN 1?

A

autosomal dominant inheritance of an inactivating mutation of the tumour suppressor gene: MEN 1

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3
Q

What are symptoms of MEN 1?

A
  1. Parathyroid
  2. Pancreatic: peptic ulcers
  3. Pituitary: low libido, mass effect
  4. Others (e.g. carcinoid, adrenal, thyroid)
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4
Q

What investigations are used for MEN 1?

A

CT/MRI (whole body), genetics

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5
Q

What is the most common presenting feature of MEN 1?

A

HYPERCALCAEMIA (due to hyperPTH from parathyroid adenoma/hyperplasia)

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6
Q

What is MEN 2?

A

Autosomal dominant inheritance of activating mutations of the proto-oncogene RET

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7
Q

What is MEN 2 characterised by?

A

by having medullary carcinomas

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8
Q

What are symptoms of MEN 2A?

A
  1. Parathyroid

2. Phaeochromocytoma

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9
Q

When do MEN syndromes present?

A
  • Both MEN 2A and 2B present later in life than MEN 1 (50-70)
  • MEN 2A>MEN2B
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10
Q

What are symptoms of MEN 2B?

A
  1. Phaeochromocytoma
  2. Neuromas
  3. Marfanoid habitus: e. high-arched palate, pectus excavatum, scoliosis, etc
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11
Q

What are investigations for MEN 2A and 2B?

A
  1. Genetic testing (RET oncogene)
  2. Calcitonin
  3. Urine catecholamines
  4. CT/MRI
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12
Q

What tumours is MEN 1 associated with?

A
  1. Pituitary adenoma
  2. Parathyroid hyperplasia
  3. Pancreatic tumours
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13
Q

What tumours in MEN 2A associated with?

A
  1. Parathyroid hyperplasia
  2. Medullary thyroid carcinoma
  3. Phaechromocyttoma
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14
Q

What tumours in MEN 2B associated with?

A
  1. Mucosal neuromas
  2. Marfanoid body habitus
  3. Medullary thyroid carcinoma
  4. Pheochromocyttoma
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15
Q

What are serum levels in MEN 1?

A

high PTH and v high Ca2+

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16
Q

What are symptoms of hypercalcaemia?

A
  1. Bones
  2. Stones
  3. Constipation
  4. Depression
17
Q

Are the gastrinomas from MEN 1 different from another condition?

A

yes from zollinger-Ellison syndrome

18
Q

How is MEN 2A and 2B classified?

A

by having medullary thyroid cancer

19
Q

What investigations are done for Men A1 and 2B?

A
  1. Genetic testing: RET oncogene
  2. Calcitonin
  3. Urine catecholamine
  4. CT/MRI
20
Q

What is urine catcholmines assoicated with?

A

phaeochromycytoma

21
Q

What does MEN stand for?

A

multiple endocrine neoplasia