Neurocutaneous disorders and Tumors Flashcards
Sturge-Weber syndrome
mutations?
developmental anomaly?
non-inherited (somatic), developmental anomaly of neural crest derivatives (mesoderm/ectoderm) due to activating mutation of GNAQ gene
Sturge-Weber syndrome what does it affect
Affects small (capillary- sized) blood vessels
Sturge-Weber syndrome associations
ipsilateral leptomeningeal angioma:rises to seizures/epilepsy;intellectual disability
episcleral hemangioma;with inc IOP and early onset glaucoma.
Tuberous sclerosis
Hamartomas in CNS and skin; Angiofibromas Mitral regurgitation; Ash-leaf spots; cardiac Rhabdomyoma; (Tuberous sclerosis); autosomal dOminant; Mental retardation renal Angiomyolipoma Seizures, Shagreen patches
Tuberous sclerosis associations
increase incidence of subependymal astrocytomas and ungual fibromas.
von Recklinghausen disease
nf1
neurofibromin is a negative regulator of Ras on chromosome 17.
von Recklinghausen disease findings
Café-au-lait spots , Lisch nodules (pigmented iris hamartomas , neurofibromas in skin, optic gliomas, pheochromocytomas
von Hippel-Lindau disease
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.
von Hippel-Lindau disease findings
Cavernous hemangiomas in skin, mucosa, organs;
bilateral renal cell carcinomas;
hemangioblastoma is a high vascularity with hyperchromatic nuclei in retina, brain stem, cerebellum
pheochromocytomas
Glioblastoma multiforme (grade IV astrocytoma)`
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.
Meningioma
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.
Pseudopalisading pleomorphic tumor cells seen in
grade IV astrocytoma-Glioblastoma multiforme
laminated calcifications-spindle cells concentrically arranged in a whorled pattern; psammoma bodies-
Meningioma
Closely arranged, thin-walled capillaries with minimal interleaving parenchyma
Hemangioblastoma
retinal angiomas.
Associated with von Hippel-Lindau syndrome when found with retinal angiomas.
Schwannoma
usually found at cerebellopontine angle
Schwann cell origin, S-100
often localized to CN VIII
Antoni A and B
verocay bodies
seen in Schwannoma parallel rows of neoplastic Schwann cells
Oligodendroglioma.
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.
“fried egg” cells—round nuclei with clear cytoplasm.
slow growing.
Most often in frontal lobes
Oligodendroglioma.
Pilocytic (low-grade) astrocytoma
usually well circumscribed. In children,most often found in posterior fossa of cerebellum
May be supratentorial. GFAP
Pilocytic (low-grade) astrocytoma histology
Rosenthal fibers—eosinophilic, corkscrew fibers
Cystic + solid (gross)
Hypertropic process of astrocytes
rosenthal fibers
Homer-Wright rosettes. Solid (gross), small blue cells
Medulloblastoma
Medulloblastoma
germilne?
association and histology
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
