Neurological tumours Flashcards

1
Q

Epidemiology of primary brain tumours

A

10 in 100,000

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2
Q

Aetiology of brain tumours

A
  • Definitive cause is often unknown
  • Various inherited conditions increase risk of intracranial tumour development
  • Environmental: immunosuppression, HIV
  • Brain irradiation e.g. used to treat childhood leukaemia, increases risk of tumours, especially meningiomas
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3
Q

Pathogenesis of brain tumours

A
  • Tumours are either benign or malignant but important to note that even benign IC tumours can cause severe destruction of surrounding structures
    • Malignant IC tumours rarely metastasise outside the nervous system
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4
Q

Clinical features of brain tumours

A
  • Raised ICP, herniation
  • Acute/ chronic focal neurological deficits
  • Seizures
  • Headaches
  • Changes in mental status
  • Hydrocephalus
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5
Q

Clinical features of IC tumours based on location

A
  • Frontal lobe: contralateral weakness of arm, leg or face, personality change, expressive speech dysfunction if dominant hemisphere affected
  • Parietal lobe: contralateral sensory deficit in face, arm or leg, visual field defect
  • Temporal lobe: receptive speech dysfunction (if dominant hemisphere affected), visual field defect
  • Occipital lobe: visual field defect, cortical blindness
  • Sellar regional cavernous sinus syndrome (CNIII - VI deficits), endocrine dysfunction, optic chiasm compression
  • Brain stem: cranial nerve lesion, decreased consciousness
  • Cerebellum: dysdiadochokinesia, ataxia, intention tremor, nystagmus
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6
Q

Classic features of brain tumour headaches

A
  • Worse in morning
  • Exacerbated by coughing or straining
  • N&V
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7
Q

Effects of benign tumours

A
  • Blindness due to optic nerve compression
  • Paralysis by pressing on primary motor cortex
  • Life-threatening hydrocephalus by obstructing ventricular system
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8
Q

Diagnosis of intracranial tumours

A
  • Imaging + biopsy if needed
  • Plain CT: confirms presence of space occupying lesion
  • Subsequent contrast enhanced CT shows tumours as ring enhancing
  • Diffusion weighted MRI can better differentiate between a tumour and an abscess
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9
Q

What are gliomas?

A
  • Tumours that originate from neuroepithelial glial cells
  • >70% primary brain tumours are gliomas, mainly astrocytomas
  • Glioblastoma multiforme is the most common high-grade tumour
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10
Q

Types of gliomas

A

Low grade: WHO grade 1&2

  • Pilocytic astrocytomas (grade 1) are well-circumscribed low grade gliomas, they grow slowly and can be cured by surgical resection. They arise in the optic pathway or hypothalamus in association with neurofibromatosis type 1

Grade 2 tumours

  • E.g. diffuse astrocytomas often lack a margin between tumour and non-tumour tissue, making resection more difficult. Grade 2 tumours are more likely to evolve into higher grade tumours
  • Ependymal and oligodendrocytic tumours are less common than astrocytomas but investigation and management are similar

High grade: WHO grade 3&4

  • Glioblastoma multiforme is grade 4
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11
Q

Clinical features of gliomas

A
  • Present similarly to other IC tumours
  • Seizures, as a presentation, are more common with lower grade tumours
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12
Q

Management of gliomas

A
  • Symptomatic grade 1 gliomas are surgically removed, location permitting
  • Grade 2: watch and wait with serial imaging and clinical assessment, surgery, xRT, chemo, a combination of surgery, xRT and chemo
  • No study has shown one is better than the other
  • Partial removal of the tumour can also be beneficial
  • Important to image the tumour to find areas that appear to be high grade so these areas can be biopsied - heterogeneity of tumours…
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13
Q

What is glioblastoma multiforme?

A
  • Grade 4 glioma of astrocyte origin
  • Most common malignant primary brain tumour (12-15% of all primary brain tumours)
  • Most commonly presents in patients aged 50-60
  • Generally arise in the cerebrum but can occur anywhere
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14
Q

Types and causes of glioblastoma multiforme

A

Glioblastoma multiforme can be primary or secondary

  • Primary: >90% cases, de novo tumours in elderly patients with no evidence of a low grade lesion
  • Secondary: younger patients, usually progressing from a lower-grade tumour

The two types are histologically the same but genetically different, secondary tumours carry a better prognosis

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15
Q

Clinical features of glioblastoma multiforme

A
  • Develop rapidly
  • Most commonly raised ICP and focal neurological deficits
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16
Q

Management of glioblastoma multiforme

A
  • Tumours are commonly diffusely infiltrative without a clear margin
  • Surgical resection as a cure is almost impossible
  • Best option is to resect as much as possible and follow up with chemo and xRT
17
Q

Prognosis of glioblastoma multiforme

A
  • Median survival is <18months
  • <3% alive at 5 years
18
Q

What are meningiomas?

A
  • Primary tumours that probably originate from arachnoid mater
  • Can develop at any site where meninges are
  • Can grow near dural sinuses making removal difficult due to high risk of haemorrhage and infarction
19
Q

Epidemiology of meningiomas

A
  • 15% primary brain tumours are meningiomas
  • M:F 1:2
  • Mid 40s peak incidence
20
Q

Cause of meningiomas

A

Unknown but radiation association esp. if exposure in childhood

21
Q

Management of meningiomas

A

Determined by

  • Patient age
  • Tumour size
  • Tumour location
  • Clinical features/ presentation
  • Meningiomas are frequently benign and low grade and can be resected
  • High grade forms e.g. anaplastic meningiomas usually require post-op xRT to reduce risk of recurrence
  • Monitoring for low grade tumours that are small and not associated with oedema
  • Can cause seizures and these can be managed with AEDs
22
Q

What are nerve sheath tumours?

A
  • Rare, arise from nerves or nerve sheaths
  • Can occur in any cranial, spinal or peripheral nerve
23
Q

Types of nerve sheath tumours

A

Schwannomas: arise from Schwann cells - the most common intracranial being vestibular schwannomas

  • If a patient has bilateral schwannomas they have neurofibromatosis type 2

Neurofibromas: originate from Schwann cells and other nerve components

24
Q

Clinical features of nerve sheath tumours

A

Symptoms or signs related to dysfunction in a specific nerve

Can also cause compression of local structures

  • Brain stem or other cranial nerves
    • Vestibular schwannoma may compress cranial nerve VII causing facial weakness or the cochlear part of cranial nerve VIII causing deafness and tinnitus
25
Q

Management of nerve sheath tumours

A
  • Watch and wait
  • Surgery
  • Stereotactic radiosurgery: fewer, high dose, highly localised treatments
26
Q

What is neurofibromatosis?

A
  • One of the neurocutaneous syndromes
  • Hereditary disorders characterised by multi-organ malformations and tumours
27
Q

Epidemiology of neurofibromatosis

A
  • NFT1: 1 in 2500
  • NFT2: 1 in 50,000
28
Q

Aetiology of neurofibromatosis

A
  • Both types are AD
  • Overgrowth of embryonic ectodermal tissue
  • The result is a loss of tumour suppressor gene function
  • Tumours are usually benign (<1% malignant)
29
Q

Clinical features of neurofibromatosis

A

NFT1

  • Skin: café-au-lait spots, freckling, neurofibromas
  • CNS: intracranial tumours, intraspinal tumours, epilepsy
  • PNS: peripheral nerve neurofibroma
  • Solid organs/ blood: medullary thyroid cancer, leukaemia
  • Meningiomas
  • Bones: scoliosis, bone hypertrophy
  • 5% of patients with NFT1: sarcomatous malignant changes in a neurofibroma
  • Classical feature in NFT2: bilateral vestibular schwannomas, skeletal manifestations often absent

NFT2

  • CNS: bilateral acoustic neuromas/vestibular schwannomas (hallmark), neuromas, gliomas
  • Eyes: cataracts (juvenile posterior subscapular)
  • Skin: rare to get café-au-lait spots
30
Q

Diagnostic criteria for neurofibromatosis

A

Strict diagnostic criteria for both types, family history, physical examination, MRI are essential

Diagnosed if 2+ present:

  • 6+ café au lait spots
  • 2+ nodular neurofibromas
  • Freckles on axilla or inguinal region
  • 2+ Lisch nodules (eyes)
  • 1st dgeree relative w/ NFT1
  • Distinctive bone lesion e.g. sphenoid wing dysplasia

Presence of bilateral acoustic neuromas is diagnostic of NFT2

31
Q

Management of neurofibromatosis

A
  • Managed by MDT of geneticists, neuro, plastics and PT
  • Symptomatic treatment: anticonvulsants for epilepsy
  • Intracranial and intraspinal tumours may need removing surgically if associated with compressive symptoms

Familial screening and genetic counselling important

32
Q

What is tuberous sclerosis complex?

A
  • Neurocutaneous condition
  • Less common than NF
  • 1 in 30,000
33
Q

Aetiology of tuberous sclerosis

A

AD inheritance

  • High rate of sporadic mutation

Due to mutations in hamartin/ tuberin tumour suppressor genes

  • Results in abnormal cell signalling, growth and migration
34
Q

Clinical features of tuberous sclerosis

A
  • Ectodermal tumours affecting skin, nervous system, solid organs and bone
  • Classic triad (Vogt triad) only occurs in 1/3)
35
Q

Diagnostic features of tuberous sclerosis

A

Suspect in patient with seizures + delayed development + facial angiofibromas

Imaging used to assess extent of disease

Major features

  • Facial angiofibromas
  • Shagreen patches
  • Subependymal giant cell astrocytomas
  • Cardiac muscle rhabdomyoma

Minor features

  • Pitting of teeth
  • Bone cysts
  • Gingival fibromas
  • Multiple renal cysts
36
Q

Management of tuberous sclerosis

A
  • Seizures controlled with anticonvulsants
  • Intracranial lesions can be resected
  • mTOR inhibitors for subependymal giant cell astrocytomas