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Final Year > Neoplasms and Genetic syndrome > Flashcards

Neoplasms and Genetic syndrome Flashcards

1
Q

Classification of brain tumours?

A

Gliomas
astrocytomas, oligodendrogliomas, ependymomas)
meningiomas, schwannomas

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2
Q

Brain tumours
Secondary

A

Common metastases
lung, breast, melanoma

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3
Q

Common Presentations

A
  • Headaches (worse in the morning, with positional changes)
  • Nausea/vomiting (raised ICP)
  • Focal neurological deficits (e.g., hemiparesis, aphasia)

-Seizures

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4
Q

Key tumour types?

A

glioblastoma multiforme GBM

Meningioma

Pituitary adenoma

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5
Q

Glioblastoma Multiforme (GBM):

A

Aggressive, poor prognosis, ring-enhancing lesion on MRI

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6
Q

Meningioma

A

Extra-axial, often benign, “dural tail” sign on imaging

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7
Q

Diagnosis

A

Imaging: CT/MRI (MRI preferred for detailed structural evaluation)

Biopsy for histopathology (gold standard)

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8
Q

Mx of tumours?

A

Surgery: First-line for resectable tumours

Radiation therapy: Often used for residual disease

Chemotherapy: E.g., temozolomide for glioblastoma

Symptom control:

Corticosteroids for cerebral edema

Antiepileptics for seizure prophylaxis

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9
Q

Neurofibromatosis (NF)

A

NF1:

Autosomal dominant (mutation in NF1 gene)

Features: Cafe-au-lait spots, neurofibromas, Lisch nodules (iris hamartomas), optic gliomas

Associated risks: Learning difficulties, skeletal abnormalities (e.g., scoliosis)

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10
Q

Neurofibromatosis NF2

A

NF2:

Autosomal dominant (mutation in NF2 gene)

Features: Bilateral vestibular schwannomas, hearing loss, tinnitus, cataracts

Increased risk of meningiomas and ependymomas

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11
Q

Diagnosis
Neurofibromatosis

A

NF1: Clinical criteria (e.g., ≥6 cafe-au-lait spots, neurofibromas, or family history)

NF2: Genetic testing, MRI for vestibular schwannomas

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12
Q

Mx for NF ?

A

Multidisciplinary approach:

Regular monitoring (e.g., ophthalmology for optic gliomas, audiology for hearing loss)

Surgery for symptomatic tumours

Genetic counseling for family planning

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13
Q

Tuberous Sclerosis

  1. Pathophysiology
A

Autosomal dominant (mutations in TSC1 or TSC2 genes)

Causes widespread hamartomas affecting multiple organs

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14
Q

A 35-year-old presents with progressive hearing loss and bilateral vestibular schwannomas on MRI. Diagnosis?”

A

Answer: NF2

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15
Q

NF1: “CAFE SPOT”

A

Cafe-au-lait spots

Axillary freckles

Fibromas (neurofibromas)

Eye Lisch nodules

Skeletal abnormalities

Positive family history

Optic glioma

Tumours

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16
Q

Diagnosis of tuberous sclerosis

A

Major features: Facial angiofibromas, cortical dysplasias, retinal hamartomas

Minor features: Dental pits, rectal polyps

17
Q

tuberous

A

Imaging:

MRI brain (for CNS involvement)

Renal ultrasound or MRI

18
Q

Tuberous Sclerosis

A

Anti-epileptics for seizures (first-line for symptom control)

Everolimus (mTOR inhibitor) for SEGAs and renal angiomyolipomas

Surveillance:

Regular renal imaging

EEG for epilepsy monitoring

Multisystem monitoring with specialist teams

19
Q

LMN neurone signs where is the lesion?

A

anterior horn of the spinal cord, peripheral nerve NMJ or muscle

20
Q

LMN signs?

A

paralysis
atrophy / loss of muscle
fasciculations / muscle twitching
hyporeflexia / decreased absent reflexes

21
Q

Riluzole

A

medication used in ALS

reduces release of glutamate
> primary excitatory neurotransmitter in CNS

22
Q

parkinsons is a

A

reduction of dopaminergic neurones in the basal ganglia

LOss of dopaminergic neurones in the substanstia Nigra

23
Q

Basal ganglia is a group of structures

A

coordinates movement
learning specific movement patterns

24
Q

is Parkinson’s bilateral or unilateral?

A

worse on one side 4-6 hertz frequency

25
Q

benign essential tremor

is worse with rest?

A

false
improves with rest

26
Q

levodopa

A

synthetic dopamine
oral intake

combine with a peripheral decarboxylase inhibitor

> stops metabolims befor eit reaches brain

27
Q

main side effect of levodopa?

A

dyskinesia
> muscle contraction abnormal

chorea
jerking random movements

28
Q

how to manage the main side effect of levodopa?

A

amantadine
glutamate antagonist

29
Q

COMT Inhibitors

A

metabolises levodopa in both the body and brain. Entacapone is taken with levodopa (and a decarboxylase inhibitor) to slow the breakdown of the levodopa in the brain. It extends the effective duration of the levodopa.

30
Q

what is the role of cabergoline

A

dopamine agonists
mimic action dopamine in the basal ganglia
stimulates dopamine receptors

31
Q

Huntingtons chorea

A

autosomal dominant genetic condition
trinucleotide repeat disorder
HTT gene on chromosome 4

32
Q

trinucleotide repeat disorders

A

huntingtons
fragile X
spinocerebellar ataxia
myotonic dystrophy
friedrich ataxia

33
Q

genetic anticipation.

A

successive generations have more repeats in gene

earlier age of onset
increased severity of disease

34
Q
A

Final Year (23 decks)

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