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Endocrinology > Rare genetic endocrine conditions > Flashcards

Rare genetic endocrine conditions Flashcards

1
Q

What does MEN stand for?

A

Multiple Endocrine Neoplasia

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2
Q

What is MEN1?

A

MEN 1 is a multiple tumour syndrome, causing a spectrum of tumour types, from neuroendocrine tumours to non-neuroendocrine tumours

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3
Q

What are the main 3 tumours formed in MEN1?

A

3Ps:
- Parathyroid tumours
- Pituitary adenomas
- entero-Pancreatic neuroendocrine tumours

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4
Q

What are some other tumours that can form in MEN1?

A
  • Thymic/bronchial NETs
  • Functioning/Non-functioning adrenal tumours
  • Lipomas
  • Meningiomas
  • Collagenomas
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5
Q

Describe the genetics of MEN1

A

Autosomal dominant
Follows double hit hypothesis to MEN1 genes
MEN1 genes code for menin, which helps in DNA damage response, chromatin remodelling and cell signalling

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6
Q

How is MEN1 managed?

A

Surveillance and waiting for problems to arise

Treat problems when they do arise

Screening is constant throughout the patients lifetime with blood testing and radiological testing

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7
Q

What are the main cancers formed in MEN2?

A
  • Parathyroid tumours
  • Medullary thyroid cancer
  • Phaeochromocytoma
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8
Q

What is MEN2?

A

Rare familial cancer syndrome caused by mutations in the RET proto-oncogene

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9
Q

What are some other features of MEN2?

A

Cutaneous lichen amyloidosis
Hirschprung disease

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10
Q

Describe the genetics of MEN2

A

Autosomal dominant
Mutation in RET gene (Proto-onco gene)
Affects cysteine residues, resulting in activation of tyrosine kinase receptor

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11
Q

What are the 2 classes of MEN2?

A

MEN2A
MEN2B

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12
Q

What is MEN2A?

A

Simple syndrome
Accounts for 90-95% of MEN2
Medullary thyroid cancer, phaeochromocytoma and parathyroid tumours

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13
Q

What is MEN2B?

A

Severe MEN2 varient
Medullary thyroid cancer, phaeochromocytoma and:
- Marfanoid habitus
- Mucosal neuroma
- Medullated corneal fibres
- Intestinal autonomic ganglion dysfunction

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14
Q

What is Von Hippel-Lindau syndrome?

A

Inherited disorder causing multiple tumours, both benign and malignant, in the central nervous system (CNS) and viscera

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15
Q

What are the main 2 tumours formed in Von Hippel-Lindau syndrome?

A
  • Phaeochromocytoma
  • Pancreatic NETs
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16
Q

What are some other conditions that can occur in VHL?

A
  • Renal cell carcinoma
  • Renal cysts
  • Haemangioblastomas
  • Pancreatic cysts
  • Endolymphatic sac tumours of the middle ear
17
Q

Describe the genetics of Von Hippel-Lindau syndrome

A

Autosomal dominant
Mutation in VHL gene
Leads to accumulation of HIF proteins and stimulation of cellular proliferation

18
Q

How is VHL managed?

A

Family screening
Lifelong surveillance for tumours
Manage tumours appropriately

19
Q

What is neurofibromatosis-1?

A

Genetic condition that causes tumours along the nervous system

20
Q

What are the diagnostic criteria for neurofibromatosis (Features)?

A

≳2 of the following is diagnostic:

  • ≳6 cafe-au-lait macules
  • ≳ neurofibromas of any type, or one plexiform neurofibroma - the neurofibroma is the major NF-1 associated tumour
  • Axillary or inguinal freckling
  • Optic glioma
  • ≳2 Lisch nodules
  • Distinctive osseous lesion e.g. sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
  • First degree relative with NF1
21
Q

What are some other associated conditions of neurofibromatosis-1?

A

Scoliosis
Learning difficulties
Phaeochromocytoma (Rare)

22
Q

Describe the genetics of neurofibromatosis-1

A

Mutation in NF1 gene

23
Q

What is Carney complex?

A

Rare genetic disorder characterized by multiple benign tumours (multiple neoplasia)

24
Q

What organs or systems are most commonly affected by Carney complex?

A

Heart
Skin (And skin pigmentation)
Endocrine system

25
Q

Describe the genetics of Carney complex?

A

Mutation in PRKAR1A
Causes defective regulatory sub-unit, allowing aberrant PKA signalling and thus uncontrolled proliferation

26
Q

What are some manifestations of Carney complex?

A

Spotty skin pigmentation
Myxoma (Cardiac, breast, mucosal)
PPNAD
Acromegaly
Thyroid carcinoma
Blue naevi formation
Osteochrondromyxoma
Psammomatous melanotic schwannoma

27
Q

What is PPNAD?

A

Primary pigmented nodular adrenocortical disease
Causes adrenal glands to produce excess cortisol, leading to Cushing’s

28
Q

What is McCune-Albright?

A

Complex genetic disorder affecting the bone, skin and endocrine systems

29
Q

Describe the genetics of McCune-Albright

A

Post-zygotic somatic GNAS mutation (not germline) resulting in mosaicism
Results in constitutive adenylyl cyclase signalling and overproduction of several hormones

30
Q

How does McCune-Albright present?

A
  • Cafe-au-lait skin pigmentation
  • Polyostotic fibrous dysplasia
  • Precocious puberty (typically females)
  • Thyroid nodules
  • GH excess
  • Cushing’s syndrome

Endocrinology (42 decks)

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