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Endocrinology > Multiple endocrine neoplasia > Flashcards

Multiple endocrine neoplasia Flashcards

1
Q

What is MEN?

A

Heridatary cancer syndrome, caused by rare autosomal dominant disorder - Can be sporadic

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2
Q

What systems do MEN affect and how?

A

Tumours or hyperplasias in 2 or more endocrine glands

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3
Q

What is the difference between MEN and sporadic endocrine tumours?

A

There is a collection of endocrine malignancies in MEN compared to sporadi

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4
Q

How is MEN screened for and why is it important?

A

Requires family screening to determine the heridatary consequences in a family. It is important to treat MEN early as they tend to metastasis at a greater rate

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5
Q

What are the different classifications of MEN?

A

MEN1 (wermers syndrome)
MEN2A (Sipple syndrome)
MEN2B
MEN2 - familial medullary thyroid cancer

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6
Q

Match the gene mutated to correct MEN

  1. MEN1
  2. MEN2

A.RET
B.MENIN

A

1B, 2A

  1. Loss of function mutation of a tumour suppressor causing unregulated growth
  2. Activation mutation of a proto-oncogene causing activation of RTKs- uncontrolled growth
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7
Q

Describe the parts of the endocrine affected in MEN1

A

Neoplastic lesion in pituitary (adenoma), parathyroid and the pancreatic islet cells (neuroendocrine tumours).

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8
Q

State the non-endocrine features of MEN1

A

lipomas, angiofibromas, collagenomas

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9
Q

What three catagories are assessed to diagnose MEN1

A

Clinical, familial and genetic

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10
Q

What is the clinical evaluation in MEN1?

A

Whether a patient presents with 2 or more MEN-1 associated tumours

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11
Q

What is the familila part of diagnosing MEN1?

A

whether there is a first degree relative with MEN1

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12
Q

What is the genetic basis for diagnosing MEN1+

A

If individual carries the mutation without any clinical manifestation

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13
Q

What is the most common biochemical features of MEN1?

A
  • (P) Hyperparathyroidism: common resulting in inappropriate secretion of PTH(hyperglycaemia)
  • Hyperglycaemia can manifest in bones, stonesa and moans, poluria, polydipsia
  • Investigated by measuring Ca and PTH
  • Treat by parathyroidectomy
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14
Q

What is the order of enteropancreatic endocrine tumour prevelance?

A
  • Second most common
  • Order of prevalence is gastrinoma > Insulinoma > VIPoma > Glucagonoma
  • Gastrinoma has the highest associated with the highest increase to morbidity and mortality- due to high propensity to metastasise
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15
Q

What is the manifestation, diagnosis and treatment of gastrinomas?

A
  • Manifest as ulcers, diarrhoea and steatorrhoea
  • Diagnosis is a plasma gastrin of >114pmol/L+ localisation using somatostating scintigraphy
  • Treatment is surgery, PPI, H2 histamine receptor antagonists or chemotherapy
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16
Q

What is the manifestation, diagnosis and treatment of insulinoma?

A
  • Typically symptomatic
  • Hypoglycaemia: oversecreting insulin
  • Diagnosed by unsuppressed insulin with hypoglycaemia and raised C-PEP, low beta-hydroxylation using a 72h fast
  • Treat by surgery, diazoxide, or somatostatin analogues
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17
Q

What is the screening and treatment of enteropancreatic neuroendocrine tumours?

A

Biochemically
- annual fasting gut hormones and glucose
Imaging
- annual MRI/CT/endoscopic US

Treatment
- surgery or biotherapies like PPI, H2 histamine receptor antagonist, targeted radionuclide therapy

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18
Q

What hormones can be secreted in a pituitary tumour?

A
  • Prolactin(65%)
  • GH 25%
  • ACTH 5% (cushings)
  • non-functioning (10%)
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19
Q

What is the most common pituitary tumour?

A

Adrenal lesions, but do not require treatment as it is non-functioning

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20
Q

What is ectopic secretion?

A

Ectopic (inappropriate secretion of hormones by tissues that do not usually produce that hormone), e.g. due to carcinoid tumours

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21
Q

What is the manifestation and diagnosis of pituitary tumours?

A

Same as for non-MEN pituitary tumours

22
Q

What screening is required for MEN pituitary tumours?

A

Annual measurement of prolactinand IGF-1. MRI 3-5 years

23
Q

What is the treatment for MEN pituitary tumours?

A
  • Dopamine agonists for prolactin
  • Ocreotide/lanreotide for GH
  • Transsphenoidal surgery
24
Q

Describe gastric carcinoid in MEN1

A

Typically found in foregut (carcinoids).

  • Non-functioning
  • Thymic carcinoids are particularly aggressive and requires screening - requires surgery
  • Discovery is of gastric carcinoids are indcidentally
25
Q

What tools/investigations are used in diagnosing gastric carcinoid?

A
  • 5HIAA and chromogranin A are useful follow ups but do not serve as a diagnostic tool
  • CT/MRI of the chest is required annually + gastroscopic examination
  • Biopsy every 3 years if evidence for hypergastrinaemia
26
Q

What is the treatment of gastric carcinoid?

A

In advanced cases surgery and radio+chemo is necessary

27
Q

Screening for MEN1 requires what

A

Biochemical
- calcium, prolactin, gastrin and chromogranin A

Genetic
- screen germline mutations of MEN1 in patients with a first degree relative with MEN1

28
Q

What is the similarities and difference between MEN2A and B?

A

Similarities
- both tend to develop medullary cell carcinomas and phaeochromocytomas
Differences
- MEN2A: parathyroid tumours
- MEN2B: Marfanoid habitus, mucosal neuromas, and skeletal abnormalities

29
Q

What is present at diagnosis of all MEN2 patients?

A

Presence of a medullary thyroid carcinoma

30
Q

Describe the tumour formation in MEN2A

A

The development of phaeocytochromas occurs in 50% of patients and tend to be bilateral, whereas parathyroid adenomas develop in 25% of patients

31
Q

What two variants of MEN2A exist?

A

Cutaneous lichen amyloidosis and Hirschsprung’s disease.

32
Q

What do MEN2B present with?

A

Aspects of marfanoid habitus, hallmark mucosal neuromas.

33
Q

What tumours develop in MEN2B and what is their onset?

A

MTCs form at 12months - require prophylactic removal due to aggressiveness

Phaeochromocytoma onset is earlier than 2A

34
Q

Where do MTC manifest?

A

Parafollicular C-cells of the thyroid, secreting calcitonin

- Least aggressive form is familial MTC and most aggressive is MEN2B

35
Q

What are clinical features of MTC?

A

thyroid nodule or goitre, diarrhoea and flushing

36
Q

How can MTC cause adrenal dysfunction?

A

Amyloid deposition

37
Q

Describe the MTC diagnosis

A

By biochemical or genetic screening or imaging
Biochemical
- calcitonin measure of >200ng/ml with pentagastrin stimulations (rise <10ng/ml is normal, >100 consistent with C-cell hyperplasia, >200MTC)
- CEA (carcinoembryonic antigen measurement)

Genetic
- RET germ line mutation screen

Imaging

  • ultrasound
  • metastasises= CT/MRI, seestamibi or scintigraphy
38
Q

How is FNA cytology used in MTC diagnosis?

A

To exclude malignancy - on thyroid nodules

39
Q

Treatment of MTC

A

Surgical resection at the hyperplasia stage, suppression with thyroxine and follow up with calcitonin and CEA measurement.

40
Q

Describe phaeochromocytomas

A

Tumour of adrenal medulla (chromaffin cell) capable of producing mass amounts of catecholamines, metanephrines or methoxytyramine. Often asymptomatic

41
Q

Diagnose phaeochromocytomas

A

using plasma or urine metanephrines. Then localisation using MRI, CT and scintigraphy is appropriate

42
Q

Treatment of phaeochromocytomas

A

surgery after alpha and beta blockade (without the blockade the potential of bursting adrenal medulla can cause death)

43
Q

Describe parathyroid disease in MEN2A

A

Majority are hyperplasias picked up during MTC surgery. Asymptomatic with limited biochemical features, except hypercaliuria
- Diagnose like in MEN1: screening using annual Ca and PTH levels

44
Q

What screening is done for MEN2?

A

Genetic analysis is required
- RET gene mutation screen

MTC
- screen anually till 40 in MEN2A and FMTC - MEN2B require thyroidectomy before 6M

Phaeo
- Screen every 2 years

Hypoparathyroidism
- Screen every 2 years MEN2A

45
Q

In diagnosing what is an inappropriate PTH?

A

If calcium is above ref range then PTH should be low due to serum calciums negative feedback on PTH secretion

46
Q

Test for phaeo

A

plasma or urine metanephrines

47
Q

Test for MTC

A

Calcitonin measurement

48
Q

Test for enteropancreatic neuroendocrine tumours

A

fasting gut hormones and glucose

49
Q

Test for pituitary tumour

A

Hormone panel

50
Q

Test for foregut carcinoma

A

5HIAA and ChrA

51
Q

Test for hyperparathyroidism

A

PTH and calcium

Endocrinology (12 decks)

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