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MSc Endocrinology > Multiple Endocrine Neoplasia > Flashcards

Multiple Endocrine Neoplasia Flashcards

1
Q

What is Multiple Endocrine Neoplasia?

A
  • Hereditary cancer syndromes
  • Rare autosomal dominant disorders very occasionally sporadic
  • Characterised by tumours or hyperplasia in 2 or more endocrine glands
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2
Q

What are the MEN classifications?

A

MEN-1

MEN-2

  • MEN-2A
  • MEN-2B
  • Familial Medullary Thyroid Cancer
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3
Q

What are differences between MEN and sporadic Endocrine Tumours?

A
  • Involve a collection of endocrine malignancies
  • Spectrum of clinical presentation
  • Tumours occur in more than 1 endocrine gland and multiple tumours may be seen in one gland
  • Family screening is required
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4
Q

What are genetic defects in MEN?

A
  • MEN 1 – Inherited mutation causing inactivation of a tumour suppressor gene – MENIN – on the long arm of CHS11 leads to unregulated growth.
  • MEN 2 – Mutation on CHS 10 causing activation of the RET proto-oncogene, activates tyrosine kinase receptor causing unregulated growth.
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5
Q

What are the organs affected by MEN1, MEN2A, and MEN2B?

A

MEN1

  • Pituitary
  • Parathyroid
  • Pancreatic Islets

MEN2A

  • Medullary Thyroid Carcinoma
  • Parathyroid
  • Phaechromocytoma

MEN2A

  • Medullary Thyroid Carcinoma
  • Marfanoid Habitus
  • Phaechromocytoma
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6
Q

What is MEN-1?

A
  • Parathyroid glands
  • Pancreatic Islet Cell –neuroendocrine
  • Pituitary Adenomas – anterior pituitary
  • Others – adrenocortical, thyroid, foregutcarcinoids
  • Non-Endocrine features: Lipomas, Angiofibromas, Collagenomas

Combinations of approx 20 diff endo/non-endo tumours. Decreased life expectancy

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7
Q

What is a Lipoma, Angiofibromas, and Collagenomas?

A
  • Lipoma: A lipoma is a benign tumor composed of adipose tissue (body fat).
  • Angiofibroma: Angiofibromas are small, reddish brown or even flesh-colored, smooth, shiny, 0.1- to 0.3 cm papules present over the sides of the nose and the medial portions of the cheeks.[1] They contain fibrous tissue.
  • Collagenoma: Type of Connective tissue nevus, is an rare condition in which the cells in the deeper layers of the skin experience an excess of collagen.
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8
Q

What is the Epidemiology?

A
  • Prevalence is 0.25% of the population (1:35,000)
  • Variable penetrance
  • Variable clinical manifestations
  • Typically manifests after the 1st decade
  • Symptoms occur in the 3rd decade in women and the 4th in men
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9
Q

What is Classification for diagnosis of MEN?

A
  • Clinical Diagnosis: A patient with 2 or more MEN1- Associated tumours
  • Familial Diagnosis: A patient with MEN1 – associated tumour and a first degree relative with MEN1
  • Genetic Diagnosis: An individual with MEN1 mutation with no clinical manifestations
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10
Q

What is Hyperparathyroidism in MEN1?

A
  • Most common feature of MEN1.
  • Penetrance nearly 100%, occurs early in life
  • Affects all four glands
  • Clinical features: Polydipsia, Polyuria
  • Diagnosis: Inappropriately raised PTH for raised calcium, sestamibi scan.
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11
Q

How is Screening and Treatment for Hyperparathyroidism conducted in MEN1?

A
  • Screening: Annual Ca and PTH
  • Treatment: Parathyroidectomy (total or partial)
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12
Q

What is the differences between non-MEN1 HPT and MEN1 HPT?

A
  • Hypercalcaemia is mild
  • Earlier onset – 25 years vs 55 years
  • Greater loss of bone mineral density
  • Equal M:F
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13
Q

Describe Enteropancreatic Neuroendocrine tumours in MEN1?

A

Second most common manifestation – 60%

  • Gastrinoma>Insulinoma>VIPoma>Glucagonoma
  • Multicentric
  • Varied size and progression
  • Sometimes co-secretory, Sometimes non-secretory
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14
Q

What are Gastrinomas?

A

Commonest cause of morbidity and mortality

High propensity to metastasize. Hyperparathyroidism in MEN1 exacerbates ZES

Clinical manifestations: ulcer, diarrhoea and steatorrhoea

Diagnosis: Plasma gastrin >114pmol/L, Localisation by somatostatin receptor scintigraphy

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15
Q

How are Gastrinomas treated?

A

Treatment:

  • Surgery
  • PPI’s
  • H2 histamine receptor antagonists
  • Chemotherapy
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16
Q

How insulinomas treated?

A

Affect 20-30% patients, 10% insulin and gastrin. Usually solitary, benign and symptomatic. Occurs in the pancreas

  • Symptoms: Those of hypoglycaemia
  • Diagnosis: Unsuppressed insulin with hypoglycaemia and raised C-PEP, low βOHB often use 72 hour fast
  • Localisation not easy: CT, venous sampling
  • Treatment: Surgery, Diazoxide, Somatostatin analogues
17
Q

How is screening and treatment for Enteropancreatic Neuroendocrine tumours?

A

Screening:

  • Biochemical: Annual fasting gut hormones and glucose
  • Imaging: Annual MRI/CT/endoscopic US

Treatment:

  • Surgery: Controversial
  • Biotherapy: PPIs, H2 histamine receptor antagonists, Targeted radionuclide therapy or chemotherapy
18
Q

What are Pituitary Tumours in MEN1?

A
  • Apparent in 30-50% patients

Clinical presentation depends on hormone secreted

  • 60% prolactin
  • 25% growth hormone
  • 5% ACTH
  • 10% non-functioning

Sometimes the secretion is ectopic e.g.due to carcinoid tumours.

Adrenal lesions are common (20-40%) but usually non-functioning and do not require treatment.

19
Q

What are presentations, investigations and management of Pituitary Tumours?

A
  • Presentation, investigation and management are as non-MEN pituitary tumours however more frequent in women, more invasive and therefore aggressive and frequent co-secretory
  • Screening: Annual Prolactin and IGF-1, MRI 3-5 yrs
  • Treatment: Dopamine agonists for Prolactin, ocreotide/lanreotide for GH, transphenoidal surgery
20
Q

Describe Foregut Carcinoid in MEN1?

A
  • Occur in 10% MEN1 patients, more freq than in the general population.
  • Sporadic carcinoid predominantly mid and hindgut. MEN1 predominantly foregut.
  • Usually non-functional
  • Bronchial carcinoids mainly in women and thymic in men.
  • Thymic are agrressive and therefore screening of these patients is recommended.
  • Gastric carcinoid usually found incidentally.
21
Q

How are foreut carcinoid screened, diagnosed and monitored?

A
  • 5HIAA and chromogranin A unhelpful in diagnosis
  • CT/MRI chest every 1-2years
  • Gastroscopic examination and biopsy every 3 years if there is evidence of hypergastrinaemia
  • If disease is advanced – surgery and radio+chemo
  • Thymic tumours are aggressive and always require surgery
22
Q

How is MEN1 screened?

A

Biochemical screening

  • Calcium, prolactin, gastrin and chromogranin A
  • Rarely develops <5 or >70 years, 95% by 40.

Genetic screening

  • MEN1 germline mutation testing in patients and first degree relatives
  • No mutation identified in 10-20%
  • No genotype-phenotype correlation
  • >300 mutations reported, usually family specific
23
Q

What are syndromes in MEN2?

A
  • Medullary Cell Carcinoma
  • Phaeochromocytoma
  • Parathyroid tumours (MEN 2A)
  • Marfanoid habitus, mucosal neuromas and skeletal abnormalities (MEN 2B)
24
Q

What are features of Marfanoid Habitus?

A
  • Pes Cavus
  • Mucosal Neuromas
  • Slender body
  • Long limbs
  • Decreased Upper: lower body ratio
  • Pectus Excavatum
  • Arachnodactyly
  • Dilation of aorta
25
Q

What is present in all patients when MEN2 is diagnosed?

A
  • Medullary thyroid carcinoma is present in all patients at diagnosis.
26
Q

What is the epidemiology surrounding MEN 2A?

A
  • The most common type of MEN2 (80-90%)
  • Prevalence is 1:40,000
  • Phaeos in 50%, usually bilateral, peak 40yrs
  • Parathyroid adenomas 25%
27
Q

What are the 2 variants in MEN 2A?

A
  • Cutaneous Lichen amyloidosis
  • Hirschsprung’s disease
28
Q

What is the epidemiology surrounding MEN 2B?

A
  • Prevalence 1:1,000,000, 5% MEN2
  • Patients have some aspects of marfanoid habitus, hallmark mucosal neuromas
  • MTC: Early onset (12M), aggressive, prophylatic removal if have mutation
  • Phaeochromacytomas occur earlier than in type 2A
29
Q

What is a Medullary cell thyroid carcinoma?

A
  • In parafollicular C-cells of thyroid, secrete calcitonin
  • Multifocal, involves both lobes. Amyloid deposition occurs in the gland
  • In the general population 70-80% MTC is sporadic and the remainder inherited. Least aggressive in FMTC and most aggressive in MEN2 B.
  • Hyperplasia progresses to malignant change
  • Earliest case in 2A is 3 yrs of age. In 2B may be present from birth
30
Q

What are clinical features of Medullary Cell Thyroid Carcinoma?

A
  • Thyroid nodule or goitre
  • Diarrhoea
  • Flushing.
31
Q

How is a Medullary Thyroid Carcinoma diagnosed?

A

Biochemical

  • Calcitonin >200ng/ml + pentagastrin stimulation
  • Carcinoembryonic antigen (CEA)

Genetic testing for RET germ line mutation

  • 95% patients have gene identified
  • Good genotype:phenotype correlation (unlike MEN1) normal RET analysis excludes the disease
  • Can be carried out at birth or in utero

Imaging

  • Ultrasound most commonly used- cheap
  • If mets MRI, CT, Sestamibi, Scintigraphy

FNA cytology

  • Used on thyroid nodules to exclude malignancy
32
Q

How is Medullary Thyroid Carcinoma treated?

A
  • Surgical resection at the hyperplasia stage
  • Suppression with thyroxine
  • Follow up with calcitonin and CEA measurement
33
Q

What is the epidemiology of Phaeochromacytoma?

A
  • Bilateral in 70%
  • Rarely extra-adrenal or malignant
  • Often asymptomatic
34
Q

How is Phaeochromocytoma diagnosed and treated?

A
  • Diagnosis - plasma or urine metanephrines
  • Localisation – CT, MRI, Scintigraphy
  • Treatment – surgery after α and β blockade
35
Q

How does Parathyroid disease present in MEN2?

A
  • Seen in 25-30% MEN2A patients
  • Majority hyperplasia only – picked up during MTC surgery.
  • Often asymptomatic and no abnormal biochemistry although hypercalciuria may occur
  • Not all glands are involved
36
Q

How is MEN2 screened?

A
  • RET gene mutation analysis to identify carriers
  • MTC screening annually age 3-40yrs in MEN2A and FMTC, thyroidectomy <6M in MEN2B
  • Phaeo every 2 years from 5 years of age
  • HPT every 2 years from 10 years of age in MEN2A
  • Patients should be monitored for recurrence

MSc Endocrinology (16 decks)

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