Chapter 28 part 7 Flashcards
Primary germ cell tumors–where? when?
midline–pineal and suprasellar regions
- first two decades
- metastasis of a gonadal germ cell tumor to the CNS is common
- CSF levels- alpha-fetoprotein, B-HCG
pineal parenchymal tumors–range from? who?
- arise from specialized cells of pineal gland
- range from well-differentiated lesions (pineocytomas) to high-grade tumors (pineoblastoma)
- high grade pineal tumors–children–mutations in RB
- low grade lesions-adults
meningiomas–what are they? risk factor? spread how?
- benign tumors of adults, usually attached to dura, that arise from the meningothelial cells of the arachnoid
- uncommon in children; more common in females
- prior radiation therapy to head and neck
- en plaque- tumor spreads in sheetlike fashion- grade 1
meningiomas- genetics
- loss of chromosome 22 (NF2 gene- merlin)
- sporadic- 50% have mutations in NF2- higher grade
- other common mutations- TRAF7 (TNF-R associated factor)- lower grade
meningiomas- histologic patterns
- syncytial
- fibroblastic
- transitional
- psammomatous
- secretory
- microcystic
atypical meningiomas
Grade II
- higher rate of occurrence, more aggressive local growth
- clear cell and chordoid histologic patterns
anaplastic (malignant) meningioma
Grade III
-highly aggressive
metastatic tumors- mostly? 5 most common sites
- mostly carcinomas (25-50% of intracranial tumors)
- lung, breast, skin, kidney, GI tract
metastatic tumors- morphology
- boundary bw tumor and brain parenchyma well-defined
- nodules of tumor-central areas of necrosis, surrounded by reactive gliosis
- meningeal carcinomatosis- associated with carcinoma of lung and breast
paraneoplastic syndromes–mechanism?
-development of an immune response against tumor antigens– cross react with age in central or peripheral nervous system
subacute cerebellar degeneration
- destruction of purkinje cells, gloss, chronic inflammatory infiltrate
- circulating PCA-1 ab (anti-Yo) recognizes cerebellar purkinje cells
- in women with ovarian, uterine, breast carcinoma
Limbic encephalitis
- subacute dementia, perivascular inflammatory cuffs, microglial nodules, neuronal loss, gliosis
- ANNA-1 ab (anti-hu)- neuronal nuclei in CNS/PNS (small cell carcinoma of lung)
- ab that recognizes NMDA R- cross reacts with hippocampal neurons (ovarian teratomas)
- appears before any malignancy is suspected
eye movement disorder associated with?
neuroblastoma in kids
subacute sensory neuropathy
-loss of sensory neurons from dorsal root ganglia
lambert-eaton myasthenic syndrome
Abs against voltage gated Ca channel in presynaptic elements of NMJ
Bowden syndrome
- mutations in PTEN (P13K/AKT signaling pathway)
- dysplastic gangliogliocytoma of cerebellum
Li-Fraumeni syndrome
- medulloblastomas
- mutations in TP53
Turcot syndrome
medulloblastoma, glioblastoma
-mutations in APC or mismatch repair genes
Goblin syndrome
- medulloblastoma
- mutation PTCH gene (SHH signaling)
Tuberous sclerosis complex-clinical genes?
- autosomal dominant
- development of hamartomas and benign neoplasms
- clinical- seizures, autism, mental retardation
- TSC1 (hamartin)
- TSC2 (tubers)- more common
- these 2 inhibit kinase mTOR (key regulator or protein synthesis, cell size)
- voluminous amounts of cytoplasm
Tuberous Sclerosis Complex morphology
- cortical hamartomas- like potatoes (tubers)- firm areas of cortex
- cells stain for tubers, hamartin
Von Hippel- Lindau Disease- what is it? Gene?
- Autosomal dominant
- hemangioblastomas of CNS and cysts in pancreas, liver, kidneys; renal cell carcinoma and pheochromocytoma
- VHL (tumor suppressor gene)- down regulate HIF-1
Von- Hippel Lindau Disease morphology
- hemangioblastomas- highly vascular neoplasms- fluid filled cyst
- second hit in VHL allele
Neurofibromatosis
-2 autosomal dominant disorders- NF1 and NF2
