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AP/CP Boards > Neuro > Flashcards

Neuro Flashcards

1
Q

GLIOMAS

A

GLIOMAS

  • Astrocytoma
  • Oligodendroglioma
  • Ependymoma
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2
Q

Astrocytomas

  • Infiltrating
  • Non-infiltrating
A

Astrocytomas

  • Infiltrating
    • Diffuse astrocytoma
    • Anaplastic astrocytoma
    • Glioblastoma
    • Gliomatosis cerebri
  • Non-infiltrating
    • Pilocytic astrocytoma
    • Pleomorphic xanthosastrocytoma
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3
Q

Infiltrating Astrocytoma

  • __% of primary adult tumors
  • Location
  • Spectrum of histologic grades:
    • WHO Grade II:
    • WHO Grade III:
    • WHO Grade IV:
  • Age:
    • Diffuse astrocytoma:
    • Anaplastic astrocytoma:
    • GBM:
  • High grade (III and IV): __ therapy
A

Infiltrating Astrocytoma

  • 80% of primary adult tumors
  • Cerebral hemispheres most common
  • Spectrum of histologic grades:
    • WHO Grade II: diffuse astrocytoma
    • WHO Grade III: anaplastic astrocytoma
    • WHO Grade IV: glioblastoma
  • Age:
    • Diffuse astrocytoma: 35 y/o
    • Anaplastic astrocytoma: 45 y/o
    • GBM: 60 y/o
  • High grade (III and IV): adjuvant therapy
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4
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A
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5
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6
Q
A

Glioblastoma, WHO grade IV

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7
Q

Astrocytic Genetics

A

Astrocytic Genetics

  • Low Grade: p53 mutations and over expression of PDGF-A and its receptors
  • Isocitrate dehydrogenase I (IDH 1), a metabolic enzyme in the citric acid cycle, is commonly mutated in astrocytomas, oligodendroglioma, and mixed gliomas- low grade (II) and anaplastic (III). Associated with better prognosis.
  • Primary Glioblastomas: MDM2 amplification, mutated/ aberrant expression of EGFR/p16 deletion/ PTEN mutation
  • Better response to chemotherapy: Methylation of promoter for gene encoding MGMT.
  • 10q/PTEN deletion (e.g., whole-arm loss): predominantly astrocytic ‘signature’; comprises independent negative prognostic factor
  • EGFR amplification (chromosome 7): evident in ‘primary’ glioblastomas (small-cell cytophenotype); comprises independent negative prognostic factor
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8
Q
A

Gemistocytic astrocytoma

  • p53 positive
  • Prone to progress to anaplastic and GBM
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9
Q

Non-infiltrating Astrocytomas

  • Pilocytic astrocytoma
    • Grade
    • Age
    • Location
    • Genetics
  • Pleomorphic xanthosastrocytoma
    • Grade
    • Age
    • Location
A

Non-infiltrating Astrocytomas

  • Pilocytic astrocytoma
    • Grade I
    • Children and young adult
    • Cerebellum, thalamus, optic nerve
    • NF1
  • Pleomorphic xanthosastrocytoma
    • Grade II
    • Children and young adults
    • Temporal lobe most common
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10
Q
A

Pilocytic astrocytomas, WHO Grade I

  • Biphasic appearance (compact or loose)
  • Compact area: Rosenthal fibers
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11
Q
  • Age
  • Location
  • Interval to anaplastic progression
  • __ deletion, oligodendroglial ‘signature’; connotes chemosensitivity
A

Oligodendroglioma

  • 5-15% of gliomas
  • Age: 40 ~ 50 y/o, rare in children
  • Restricted to supratentorial compartment
  • Interval to anaplastic progression is longer relative to astrocytoma (range 9y, vs 4-5y for latter)
  • 1p, 19q deletion, oligodendroglial ‘signature’; connotes chemosensitivity
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12
Q
A

Ependymoma

  • Incidence: 5% to 10% of primary brain tumors in the 1st two decades
  • Arise around ventricular lining
  • Locations:
    • The 4th ventrical: common in children
    • Spinal: adults, mean 40 yrs, NF2
  • Loss/mutation of NF2 on chromosome 22q in spinal cord tumors
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13
Q
A
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14
Q

Neuronal/Glioneuronal Tumors

A

Neuronal/Glioneuronal Tumors

  • Ganglioglioma
  • Dysembryoplastic Neuroepithelial tumor (DNT)
  • Central Neurocytoma
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15
Q
A

Ganglioglioma, GI

  • Bi-nucleate, dysmorphic neurons
  • Low grade astrocytomas
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16
Q

Poorly Differentiated/ Embryonal Tumors

A

Poorly Differentiated/ Embryonal Tumors

  • Malignant small blue cell tumors
  • Grade IV
  • Young Children
  • Based on location:

– Medulloblastoma

– Primitive Neuroectodermal tumor of the Central Nervous System (PNET)

– Atypical Teratoid/ Rhabdoid Tumor (ATRT)

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17
Q
A

Medulloblastoma

  • 20% of pediatric brain tumors
  • Posterior fossa
  • Spreads by CSF seeding along the subarachnoid space
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18
Q
A

Primitive Neuroectodermal Tumor

  • Supratentorial tumors
  • Histologically identical to medulloblastomas, genetically differ from medulloblastomas and peripheral PNET (lack Ewing’s translocations)
  • Homer-Wright rosette
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19
Q
A
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20
Q
A

Atypical Teratoid/Rhabdoid tumor

  • 2% of pediatric brain tumors
  • Highly malignant of young children/infants (up to 5 years of age)
  • “Rhabdoid” cells
  • Multiple lineage markers (epithelial , muscle)
  • Molecular Genetics: >90% of cases show loss/mutations of hSN5/INI1 gene on chromosome 22
  • IHC: loss of normal nuclear staining for INI1
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21
Q
A

Meningioma

  • Benign tumors of adults
  • Locations:
    • Attached to dura, arise from arachnoid meningothelial cells
    • Intraventricular, arise from stromal arachnoid cells of choroid plexus
  • Slight female predominance (3:2)
  • Often express progesterone receptors
    • Rapid growth during pregnancy
  • Cytogenetics
    • loss of chromosome 22q
    • Multiple meningiomas associated with NF2
22
Q

Meningioma Grades and subtypes

A

Meningioma Grades and subtypes

  • Grade I (92%): most common, “cure” possible with complete resection
    • Meningothelial, fibrous, transitional, psammomatous, angiomatous, microcystic, secretory, lymphoplasmacyte-rich, mataplastic
  • Grade II (7%): higher rate of recurrence
    • Atypical, clear cell, chordoid
  • Grade III (rare): highly aggressive
    • Anaplastic, rhabdoid, papillary
23
Q
A

Anaplastic Meningioma

24
Q
A

Clear Cell Meningioma

25
Q
A

Atypical Meningioma

26
Q
A

Psammomatous Meningioma

27
Q
A

Fibrous Meningioma

28
Q
A

Pituitary Adenoma

29
Q
A

Subepencymoma, WHO Grade I

  • 4 th & lateral ventricles, cervical cord
  • Low-power microscopic appearance is diagnostic
30
Q
A

Neurofibroma, WHO Grade I

  • Locations: skin, peripheral nerves, spinal nerve roots
  • Most neurofibromas in spinal nerve roots are associated with NF1
31
Q
A

Adamantinomatous craniopharyngioma, WHO Grade I

  • Suprasellar, usually with intrasellar extension.
  • Surgically curable
32
Q
A

Papillary craniopharyngioma, WHO Grade I

  • Exclusively in adults, at a mean age of 40-55 years
  • Well-differentiated squamous epithelium without keratin, less palisading
33
Q
A

Hemangioblastoma, WHO Grade I

  • Cerebellum, brain stem, spinal cord
  • usually an enhancing nodule within a cyst
  • Associated (25%) with von Hippel-Lindau disease
34
Q
A

Chordoma

  • locations: clivus, sacrum, cervical spine
  • Lobules and chords of cells in a mucoid matrix
  • Locally aggressive
  • Median survival: 6 years
  • Keratin +
  • Brachyury +
35
Q
A

Pleomorphic Xanthoastrocytoma (PXA), WHO GRADE II

  • Discrete, superficial cerebral, +/- cystic, often involves meninges
  • Preferentially children & young adults; 10-year survival: 70%
  • Highly atypical, bizarre astrocytes – don’t confuse with glioblastoma!
36
Q
A

Paraganglioma, WHO Grade I

  • Locations: cauda equina, jugulotympanic, carotid body
  • Chief cells: chromogranin+, synaptophysin+; sustentacular cells: S-100+
37
Q
A

Hemangiopericytoma, WHO Grade II or III

  • High risk of local recurrence and metastasis
  • EMA negative (unlike meningioma)
38
Q
A

Germinoma

  • Most common CNS germ cell tumor
  • Children and young adults
  • Usually in the pineal or suprasellar region
39
Q
A

Central Neurocytoma, WHO Grade II

  • Typically arises in the region of foramen of Monro
  • Resembles an oligodendroglioma but is noninfiltrative and synaptophysin+
  • Benign, but total resection is not always possible
  • 5-year survival:80%
40
Q

Metastatic Tumor to Brain

A

Metastatic Tumor to Brain

  • 15% of surgically treated brain tumors are metastases
  • Mets have a noninfiltrative border and are CAM5.2+, primary tumors are CAM 5.2-(don’t use AE1/AE3)
  • Most common primaries:
    • Lung 18-60 %
    • Breast 5-21%
    • Melanoma 16%
    • Colon cancer 5-12%
    • Renal cell carcinoma 3-10%
41
Q
A

Foamy macrophages suggest an inflammatory or nonneoplastic process

  • Multiple sclerosis
  • Subacute infarct
  • Progressive multifocal leukoencephalopathy (PML)
42
Q

Familial Tumor Syndromes Involving the nervous System

A

Familial Tumor Syndromes Involving the nervous System

  • Neurofibromatosis type I
  • Neurofibromatosis type 2
  • Li-Fraumeni Syndrome
  • Turcot Syndrome
  • Gorlin Syndrome (Naevoid Basal Cell Carcinoma Syndrome)
  • Von Hippel-Lindau
  • Tuberous Sclerosis
  • Cowden Syndrome
43
Q
  • Gene:
  • Chromosome:
  • Neurvous system:
  • Skin:
  • Others:
A

Neurofibromatosis type I

  • Gene: NF1
  • Chromosome: 17q11
  • Neurvous system:
    • Neurofibroma
    • MPNST
    • optic nerve glioma
    • astrocytoma
    • PSAMMOMATOUS CARCINOID

• Almost exclusively seen in the

ampullary/periampullary location

  • Skin:
    • Café-au-lait spots
    • axillary freckling
  • Others:
    • iris hamartomas
    • osseous lesions
    • phaeochromocytoma
    • leukaemia
44
Q
  • Gene:
  • Chromosome:
  • Neurvous system:
  • Others:
A

Neurofibromatosis type 2

  • Gene: NF2
  • Chromosome: 22q12
  • Nervous system:
    • schwannoma
    • meningiomas
    • meningioangiomatosis
    • spinal ependymoma
    • astrocytoma
  • Others:
    • posterior lens opacities
    • retinal hamartoma
45
Q
  • Gene:
  • Chromosome:
  • Nervous system:
  • Others:
A

Li-Fraumeni Syndrome

  • Gene: TP53
  • Chromosome: 17p13
  • Nervous system:
    • astrocytomas
    • PNET
  • Others:
    • breast ca
    • bone and soft tissue sarcoma
    • adrenocortical ca
    • leukaemia
46
Q
  • Gene:
  • Chromosome:
  • Nervous system:
  • Others:
A

Turcot Syndrome

  • Gene: APC
  • Chromosome: 5q21
  • Nervous system:
    • medulloblastoma
  • Others:
    • colorectal polyps
  • Gene: hMLH1
  • Chromosome: 3p21
  • Nervous system:
    • glioblastoma
  • Others:
    • colorectal polyps
  • hPSM
47
Q
  • Gene:
  • Chromosome:
  • Nervous system:
  • Skin:
  • Others:
A

Gorlin Syndrome (Naevoid Basal Cell Carcinoma Syndrome)

  • Gene: PTCH
  • Chromosome: 9q22.3
  • Nervous system:
    • medulloblastoma
  • Skin:
    • multiple basal cell carcinomas
    • palmar and plantar pits
  • Others:
    • jaw cysts
    • ovarian fibroma
    • skeletal abnormalities
48
Q
  • Gene:
  • Chromosome:
  • Nervous system:
  • Others:
A

Von Hippel-Lindau

  • Gene: VHL
  • Chromosome: 3p25
  • Nervous systme:
    • hemangioblastoma
  • Others:
    • retinal hemangiolastoma
    • renal cell carcinoma
    • pheochromocytoma
    • visceral cysts
  • Immunostain: inhibin and CD10
49
Q

Gene:

Chromosome:

Nervous system:

Skin:

Others:

A

Tuberous Sclerosis

  • Gene: TSC1 and TSC2
  • Chromosomes: 9p34 and 16p13
  • Nervous system:
    • subependymal giant cell astrocytoma
    • subependymal nodules
    • cortical tubers
  • Skin:
    • cutaneous angiofibroma
    • subungual fibroma
    • fibrous hamartoma
    • hypopigmented macule
    • shagreen patch
  • Others:
    • cardiac rhabdomyoma
    • adenomatous polyps of the duodenum and the small intestine
    • cysts of the lung and kidney
    • lymphangioleiomyomatosis
    • renal angiomyolipoma
50
Q

Gene:

Chromosome:

Nervous system:

Skin:

Others:

A

Tuberous Sclerosis

  • Gene: TSC1 and TSC2
  • Chromosomes: 9p34 and 16p13
  • Nervous system:
    • subependymal giant cell astrocytoma
    • subependymal nodules
    • cortical tubers
  • Skin:
    • cutaneous angiofibroma
    • subungual fibroma
    • fibrous hamartoma
    • hypopigmented macule
    • shagreen patch
  • Others:
    • cardiac rhabdomyoma
    • adenomatous polyps of the duodenum and the small intestine
    • cysts of the lung and kidney
    • lymphangioleiomyomatosis
    • renal angiomyolipoma
51
Q

Gene:

Chromosome:

Nervous system:

Skin:

Others:

A

Tuberous Sclerosis

  • Gene: TSC1 and TSC2
  • Chromosomes: 9p34 and 16p13
  • Nervous system:
    • subependymal giant cell astrocytoma
    • subependymal nodules
    • cortical tubers
  • Skin:
    • cutaneous angiofibroma
    • subungual fibroma
    • fibrous hamartoma
    • hypopigmented macule
    • shagreen patch
  • Others:
    • cardiac rhabdomyoma
    • adenomatous polyps of the duodenum and the small intestine
    • cysts of the lung and kidney
    • lymphangioleiomyomatosis
    • renal angiomyolipoma
52
Q

Gene:

Chromosome:

Nervous system:

Skin:

Others:

A

Cowden Syndrome

  • Gene: PTEN
  • Chromosomes: 10q23
  • Nervous system:
    • dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos)
    • megalencephaly
  • Skin:
    • multiple trichilemmoma
    • fibroma
  • Others:
    • hamartomatous polyps of the colon
    • thyroid neoplasms
    • endometrial cancers
    • breast carcinoma

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