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Pathology > Neuropathology > Flashcards

Neuropathology Flashcards

1
Q

What mutations do papillary craniopharyngiomas and adamantinomatous craniopharyngiomas have?

A

Adamantinomatous craniopharyngiomas have mutations in beta-catenin which may be recognized on immunostains by accumulation of stain in nuclei.

Papillary craniopharyngiomas have mutations in BRAF V600E.

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2
Q

What stain is a lymphoid marker that cross-reacts with myelin associated protein and has been used as a second tier marker for Schwann cells?

A

CD57

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3
Q

What stain can be done in muscle biopsies that if positive is diagnostic of dermatomyositis?

A

C5b-9 (MAC) It is diagnostic in muscle biopsies but only stains about 40% of the skin lesions and it must be a linear band along the DEJ to be positive

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4
Q

What are the consequences of an uncal herniation?

A

3rd nerve compression (dilated pupil)

Reticular formation (coma)

Duret hemorrhages (death)

Posterior cerebral artery compression (occipital lobe infarct)

Kernohan’s notch–contralateral cerebral peduncle compression, weakness opposite the side of the lesion

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5
Q

What mutation is a specific point mutation (R132H) in 50-80% of astrocytomas, oligodendrogliomas, and “mixed” gliomas? The mutation found in secondary GBM (NOT IN PRIMARY GBM) and is only rarely found in other cancers (10% of AML).

A

IDH-1 mutation

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6
Q

BQ! What is the mutation that pilocytic astrocytomas can have?

A

BRAF fusion

Tandem duplication on chromosome 7q34 leads to several KIAA1549:BRAF gene exon fusions in 50% to 70% of pilocytic astrocytomas. Cerebellar (80%), Optic pathway and hypothalamic (60%), Cerebral (15%)

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7
Q

What are the tumors seen in

1) Type I VHL
2) Type II VHL?

A

Type 1: Multiple hemangioblastomas in CNS & retina, renal cell carcinoma, cysts of pancreas and kidney

Type 2: plus pheochromocytoma, endolymphatic sac tumor

VHL gene on 3p25-26; encodes tumor suppressor protein

*not sure which type but the Quick Ref for SP says VHL also get clear cell variant of pancreatic endocrine neoplasm and papillary cystadenoma of epididymis and broad ligament

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8
Q

What variant of pilocytic astrocytoma is found in hypothalamus of young children and is Grade II?

A

Pilomyxoid variant of pilocytic astrocytoma

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9
Q

What brain tumors have mutations at BRAF at codon V600E?

A
  • 66% of pleomorphic xanthoastrocytomas
  • 20% of gangliogliomas
  • 10% of pilocytic astrocytomas (usually of noncerebellar type)

Papillary craniopharyngiomas

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10
Q

They are two types of Turcot syndrome. What brain tumors are each associated with?

A

Type 1: GBM with hereditary non-polyposis colorectal carcinoma (HNPCC). Mutations of mismatch repair genes (Hpms2; 7p22)

Type 2: Medulloblastoma in patients with familial

adenomatous polyposis (FAP), Germline mutations in APC gene (5q21)

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11
Q

Name one good and one bad prognostic factor in medulloblastoma.

A

GOOD: Nuclear Beta catenein

BAD: MYC gene amplification, also Large cell/anaplastic variant

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12
Q

The cell shown is called a Creutzfeldt cell. What condition are these cells seen?

A

Demyelinating disease

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13
Q

What type of cerebral aneurysm is due to developemental defect in media and elastica (aneurysms that form over time)?

A

Saccular

These are the berry aneurysms

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14
Q

What disease causes this?

A

Syphilis

this is tabes dorsalis

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15
Q

What disease causes this?

A

B12 deficiency

combined posterior columns plus motor

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16
Q

What disease causes this?

A

ALS

motor affected

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17
Q

What organism causes this characteristic appears of organisms in perivascular spaces and this bubbly gross appearance?

A

Cryptococcosis

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18
Q

What is the most common cause of focal mass lesion in AIDS?

A

cerebral toxoplasmosis

Necrotizing lesion with free tachyzoites and encysted

bradyzoites at the lesion periphery.

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19
Q

What organism causes this appearance?

A

neurocysticercosis

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20
Q

What organism causes a mass like lesion and you see this structure?

A

Acanthamoeba/Balamuthia species

Almost exclusively in immunocompromised host

Differs from Naegleria which causes a progressive meningoencephalitis

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21
Q

What is this a gross photo of?

Multiple small lesions coalescing into one large one that relatively spares the grey matter

A

Progressive Multifocal Leukoencephalopathy

Caused by JC virus (a polyoma virus)

Pic is showing intranuclear oligodendroglial inclusion of the virus

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22
Q

What is immune reconstitution inflammatory syndrome (IRIS)?

A

When an HIV patient is developing PML and HAART therapy is introduced so the CD4 cells increase adn the viral load decreases but you see an inflammatory change to the usual changes seen in PML

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23
Q

If you see this “daisy plaque” (eosinophilic amyloid plaque with surrounding vacuoles), what is the diagnosis?

A

“New-variant” CJD

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24
Q

What is the sequence of microscopic changes seen in a cerebral infarction?

A

– 12 - 48 hrs: eosinophilic neurons; other cells (glia,etc) also die

– 3 - 7 days: macrophages enter - begins liquifaction

– 7 - 14 days: vascular proliferation; liquifaction

– weeks: resolving cavitation

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25
Q

What is this a gross image of?

A

AVM

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26
Q

What vasular brain lesion can be from an autosomal dominant inheritance in some Hispanic families with mutation of CCM1 gene (7q) (Encodes KRIT1; interacts with RAS family of GTPases)?

A

Cavernous angiomas

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27
Q

BQ! What neuro disease shows migraine with aura may be initial symptom, presenting most commonly in third decade, ischemic attacks peak between 40-50 years of age and dementia?

A

CADASIL

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Point mutations or small deletions on Notch 3 gene (chromosome 19p13). Notch 3 protein is expressed in vascular smooth muscle cells and may promote survival. Granular vascular material is reactive for Notch 3 protein.

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28
Q

What neuro disease has aquaporin 4 antibodies in 70-75% of patients?

A

NMO (Devic’s disease)

Aquaporin 4 water channel is located on astrocyte foot processes – may have role in the blood-brain barrier (BBB).

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29
Q

What chromosome has the amyloid precursor protein?

A

Chr 21

*why Down’s kids get it by 40!

Plaques are made from Aß amyloid

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30
Q

What protein(s) is/are affected in:

1) Alzeheimer’s
2) Frontotemporal degenerations (Pick’s, Corticobasal degeneration, progressive supranuclear palsy, FTDP-17)
3) Idiopathic Parkinson’s, Dementia with Lewy Bodies and Multiple System Atrophy

A

1) Beta-amyloid (plaques) and Tau
2) Tau
3) alpha-synuclein

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31
Q

What was recently identified as the major disease protein in FTLD-U and ALS?

A

TDP-43 (Transactive response (TAR)-DNA-binding protein with a molecular weight of 43 kDa)

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32
Q

Mutation in what gene is associated with holoprosencephaly?

A

SHH gene (sonic hedgehog)

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33
Q

What inflammatory cells predominate in:

1) dermatomyositis
2) polymyositis

A

1) CD4 positive T cells often perivascular
2) CD8 positive T cells

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34
Q

What is the mutation in Alexander’s disease?

A

This is a rare demyelinating disease with numerous Rosenthal fibers that is caused by a mutation in the GFAP gene

35
Q

This lesion was found in the cerebellum of a 22 yr old. What syndrome is this associated with?

A

Cowden syndrome

This is showing a dysplastic cerebellar gangliocytoma and this lesion is known as Lhermitte-Duclos disease which is associated with Cowden syndrome (PTEN mutation)

36
Q

What are the different grades for germinal matrix bleeds?

A

Grade I: hemorrhage limited to the germinal matrix zone

Grade II: rupture of blood from the germinal matrix into the ventricles, without ventricular expansion

Grade III: intraventricular hemorrhage with ventricular enlargement

Grade IV: intraventricular hemorrhage and hemorrhage into the hemispheric parenchyma

37
Q

What syndrome is associated with meningiomatosis?

A

Neurofibromatosis Type 2

38
Q

What disorder is X linked and caused by a defect in the adenosine-5’-triphosphate binding cassette transporter (ABCD1) gene, resulting in accumulation of long-chain fatty acids?

A

Adrenoleukodystrophy

X linked peroxisomal disorder of myelin and myelin-producing cells

Here there is relative sparing of the frontal lobes in contrast to metachromatic leukodystrophy that preferentially involves the frontal lobes.

39
Q

What disorder is autosomal recessive and results in accumulation of sulfatide due to a deficiency of the lysosomal enzyme arylsulfastase A and because of this results in a loss of myelin and axonal degeneration?

A

Metachromatic leukodystrophy

The adult form usually presents between 20-30 years old with psychiatric and behavioral disturbances or psychosis.

The lesions are usually bilateral, symmetrically distributed and generally spare the subcortical U fibers. The frontal lobes are preferentially involved by the disorder in contrast to adrenoleukodystrophy where there is relative sparing of the frontal lobes.

40
Q

In neurofibrillary tangle dementia, a high density of neurofibrilary tangles are found in all of the following EXCEPT:

1) Amygdala
2) Basal ganglia
3) CA1 region of the hippocampus
4) Entorhinal cortex
5) Subiculum

A

2) BASAL GANGLIA

41
Q

Mutations in all of the following genes are associated with familiar cases of Parkinson disease EXCEPT:

1) Alpha-synuclein
2) Parkin
3) PINK1
4) Tau
5) UCHL1

A

4) Tau

Tau mutations are associated with ceratin forms of frontotemporal dementia (FTDP-17).

Parkinson genes: Alpha-synuclein, parkin, UCHL1, PINK1, DJ1, LRRK2, ATP13A2 and Omi/HtrA2

42
Q

What is the most common type of frontotemporal lobe dementia?

A

FTLD-U

Characterized by ubiquitin immunoreactive structures that are tau, neurofilament, alpha-synuclein and prion negative.

A subset of patients demonstrate a mutation in CHMP2B

43
Q

What neuro disorder is associated with diabetes mellitus, gait ataxia, hypertrophic cardiomyopathy, scoliosis and sensorineural hearing loss?

A

Friedreich ataxia

44
Q

What neuro conditions is a rare group of disorders that result in prominent iron accumulation in the brain particularly in the basal ganglia region? They are associated with mutation in the PANK2 gene on chr 20 (pantothenate kinase 2) and the entity is marked by axonal spheroids, neuronal loss and gliosis predominantly in the medial globus pallidus and substantia nigra. Glial cytoplasmic inclusions which are tau and alpha-synuclein positive may be seen in involved areas.

A

Hallervorden-Spatz disease

(or neurodegeneration with brain iron accumulation)

45
Q

What variant of glioblastoma characteristically overexpresses EGFR?

A

Small cell glioblastoma

46
Q

Brachyury is a relatively new stain that is positive in what TWO tumors?

A

Chordoma

Hemangioblastoma

47
Q

Cathepsin-K is a stain which normally stains osteoclasts but it is positive in 3 other tumors, what are they?

A

Xp11 translocation RCC (both Xp11 and 6;11)

PEComas

Chordoma

48
Q

What syndrome is associated with pilocytic astrocytomas of the optic nerve?

A

NF Type 1 (30% of patients with this tumor have NF1)

49
Q

Name this tumor in the lateral ventricle.

A

Central neurocytoma

makes you think of ependymoma immediately but there are not true perivascular pseudorosettes, only areas of neuropil

50
Q

What is this?

A

AVM

51
Q

What is this?

A

Lacunar infarct

52
Q

What is this?

A

Remote infarct

53
Q

What is this?

A

Bleed likely secondary to hypertension

54
Q

What is this?

A

Amyloid angiopathy

55
Q

What is this?

A

Uncal herniation

56
Q

What is this?

A

Duret hemorrhage

57
Q

What is this?

A

Subfalcine herniation

58
Q

What is this?

A

Epidural bleed

59
Q

What is this?

A

Subdural bleed

60
Q

What is this?

A

Contusion

61
Q

What is this?

A

Diffuse axonal injury

62
Q

What is this?

A

Fat emboli

63
Q

What is this?

A

Anencephaly

64
Q

What is this?

A

Encephalocele

65
Q

What is this?

A

syringoBULBIA

*this is symantics. Notice the olivary nuclei next to the cystic dilation which tells you that you’re in the medulla (brainstem) whereas syringomyelia shown here is a cystic dilation of the spinal cord

66
Q

What is this?

A

Hydromelia

An abnormal widening of the central canal of the spinal cord

67
Q

What is this?

A

Holoprosencephaly

68
Q

What is this?

A

Chiari malformation

downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull), sometimes causing non-communicating hydrocephalus

69
Q

What is this?

A

Dandy Walker Malformation

congenital human brain malformation involving the cerebellum and the fluid-filled spaces around it. A key feature of this syndrome is the complete absence of the part of the brain located between the two cerebellar hemispheres (cerebellar vermis).[

70
Q

What is this?

A

Polymicrogyria

condition that affects the development of the human brain by multiple small gyri creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions.

71
Q

What is this?

A

Partial agenesis of the corpus callosum

72
Q

What is this?

A

Cavum septum pellucidum

a persistence of the embryological fluid-filled space between the leaflets of the septum pellucidum and is a common anatomical variant.

73
Q

What is this?

A

Plexiform neurofibroma

Diagnostic of NF1

74
Q

What syndrome does this patient have and how can you tell?

A

NF2

Pic is showing bilateral acoustic schwannomas on CNVIII

75
Q

What is this?

A

Progressive Multufocal Leukoencephalopathy

note the viral inclusions (JC virus)

76
Q

What is this?

A

Central pontine myelinolysis

result of rapid correction of hyponatremia

77
Q

What are the cells shown and what disease is this associated with?

A

Pick Cells and the pic here is showing Pick bodies

These are associated with Pick’s disease (frontotemporal dementia) and the bodies are thought to be neurofilaments and microtubules

78
Q

What is this?

A

Abscess

79
Q

What is this?

A

Cryptococcus

80
Q

What is subacute sclerosing panencephalitis (SSPE)?

A
  • Fatal, measles virus
  • Under age 12 years
  • Months – few years course
  • Progressive dementia, myoclonus, seizures, ataxia, dystonia
  • Pathology: - Gray matter subacute encephalitis, eosinophilic nuclear and cytoplasmic inclusions, neuron loss, microglia, perivascular inflammation
  • Demyelination, oligodendroglial inclusions, reactive astrocytosis
  • Cerebral atrophy – old cases
81
Q

What disease has this EM appearance?

A

Zebra bodies of Tay Sachs disease (also seen in Niemann-Pick)

  • GM2-gangliosidoses
  • Autosomal recessive, Ashkenazi Jewish population
  • Hexosaminidase A deficiency so accumulation of GM2 ganglioside
  • Brain weight normal or decreased/increased
  • Balloon neurons with cytoplasmic vacuoles
  • EM: whorled membranes or zebra bodies
  • Cherry red spot in macula
  • Death age 2-3 years
82
Q

BQ!

Luxol fast blue stain–name this entity.

A

Primary Multifocal Leukoencephalopathy (PML)

83
Q

BQ! Picture of gel showing what Apo E2/E4, E3/E4
would look like and 5 unknowns. Which
unknown is associated with loss of memory?

A

Know Apo E4 associated with Alzheimer’s and pick appropriate gel showing homozygous
E4.

Pathology (23 decks)

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