Neurocutaneous disorders and Tumors

Question 1

Sturge-Weber syndrome
mutations?
developmental anomaly?

Answer 1

non-inherited (somatic), developmental anomaly of neural crest derivatives (mesoderm/ectoderm) due to activating mutation of GNAQ gene

Question 2

Sturge-Weber syndrome what does it affect

Answer 2

Affects small (capillary- sized) blood vessels

Question 3

Sturge-Weber syndrome associations

Answer 3

ipsilateral leptomeningeal angioma:rises to seizures/epilepsy;intellectual disability
episcleral hemangioma;with inc IOP and early onset glaucoma.

Question 4

Tuberous sclerosis

Answer 4

Hamartomas in CNS and skin; 
Angiofibromas 
Mitral regurgitation; 
Ash-leaf spots; 
cardiac Rhabdomyoma; (Tuberous sclerosis); 
autosomal dOminant; Mental retardation
renal Angiomyolipoma  
Seizures, Shagreen patches

Question 5

Tuberous sclerosis associations

Answer 5

increase incidence of subependymal astrocytomas and ungual fibromas.

Question 6

von Recklinghausen disease

Answer 6

nf1

neurofibromin is a negative regulator of Ras on chromosome 17.

Question 7

von Recklinghausen disease findings

Answer 7

Café-au-lait spots , Lisch nodules (pigmented iris hamartomas , neurofibromas in skin, optic gliomas, pheochromocytomas

Question 8

von Hippel-Lindau disease

Answer 8

Autosomal dominant; mutated VHL tumor suppressor gene on chromosome 3, which results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.

Question 9

von Hippel-Lindau disease findings

Answer 9

Cavernous hemangiomas in skin, mucosa, organs;
bilateral renal cell carcinomas;
hemangioblastoma is a high vascularity with hyperchromatic nuclei in retina, brain stem, cerebellum
pheochromocytomas

Question 10

Glioblastoma multiforme (grade IV astrocytoma)`

Answer 10

adult
Common, highly malignant 1° brain tumor with ~ 1-year median survival. Found in cerebral hemispheres
Can cross corpus callosum (“butterfly glioma”).
Stain astrocytes for GFAP.
Pseudopalisading pleomorphic tumor cells—border central areas of necrosis and hemorrhage.

Question 11

Meningioma

Answer 11

Arises from arachnoid cells, is extra-axial (external
to brain parenchyma), and may have a dural attachment
Often asymptomatic; may present with seizures or focal neurological signs.

Question 12

Pseudopalisading pleomorphic tumor cells seen in

Answer 12

grade IV astrocytoma-Glioblastoma multiforme

Question 13

laminated calcifications-spindle cells concentrically arranged in a whorled pattern; psammoma bodies-

Answer 13

Meningioma

Question 14

Closely arranged, thin-walled capillaries with minimal interleaving parenchyma

Answer 14

Hemangioblastoma

Question 15

retinal angiomas.

Answer 15

Associated with von Hippel-Lindau syndrome when found with retinal angiomas.

Question 16

Schwannoma

Answer 16

usually found at cerebellopontine angle
Schwann cell origin, S-100
often localized to CN VIII

Question 17

Antoni A and B

verocay bodies

Answer 17

seen in Schwannoma parallel rows of neoplastic Schwann cells

Question 18

Oligodendroglioma.

Answer 18

Relatively rare, slow growing. 
Most often in frontal lobes
Chicken-wire capillary pattern. 
Oligodendrocytes = “fried egg” cells—round nuclei with clear cytoplasm. 
Often calcified in oligodendroglioma.

Question 19

“fried egg” cells—round nuclei with clear cytoplasm.
slow growing.
Most often in frontal lobes

Answer 19

Oligodendroglioma.

Question 20

Pilocytic (low-grade) astrocytoma

Answer 20

usually well circumscribed. In children,most often found in posterior fossa of cerebellum
May be supratentorial. GFAP

Question 21

Pilocytic (low-grade) astrocytoma histology

Answer 21

Rosenthal fibers—eosinophilic, corkscrew fibers

Cystic + solid (gross)

Question 22

Hypertropic process of astrocytes

Answer 22

rosenthal fibers

Question 23

Homer-Wright rosettes. Solid (gross), small blue cells

Answer 23

Medulloblastoma

Question 24

Medulloblastoma
germilne?
association and histology

Answer 24

Highly malignant cerebellar tumor
A form of primitive neuroectodermal tumor.
Can compress 4th ventricle, causing hydrocephalus.
Can send “drop metastases” to spinal cord.
Homer-Wright rosettes. Solid (gross), small blue cells on histology

Question 25

twisted appearing fibers with eosinophilic process of astrocytes

Answer 25

Pilocytic (low-grade) astrocytoma

Question 26

Can send “drop metastases” to spinal cord.

Answer 26

Medulloblastoma

Question 27

perivascular rosettes and Rod- shaped blepharoplasts (basal ciliary bodies) found near nucleus.

Answer 27

Ependymoma

Question 28

Ependymoma

Answer 28

Ependymal cell tumors most commonly found in 4th ventricle

Can cause hydrocephalus. Poor prognosis.

Question 29

Craniopharyngioma

Answer 29

Benign childhood tumor, may be confused with pituitary adenoma (both can cause bitemporal hemianopia). Most common childhood supratentorial tumor.

Question 30

Derived from remnants of Rathke pouch

Answer 30

oral ectoderm Craniopharyngioma