Clinical Other

Neuro-Oncology

Neuro-Oncology

What You'll Learn

  • WHO 2021: Molecular markers now trump histology — adult diffuse gliomas are classified into 3 types only: astrocytoma (IDH-mutant), oligodendroglioma (IDH-mutant + 1p/19q codeleted), glioblastoma (IDH-wildtype)
  • IDH mutation = better prognosis: IDH-mutant astrocytoma (even grade 4) has better outcomes than IDH-wildtype glioblastoma
  • 1p/19q codeletion is REQUIRED for oligodendroglioma diagnosis — no codeletion = not an oligodendroglioma regardless of histology
  • Brain metastases are the most common brain tumors overall; lung is #1 primary source; melanoma and renal most likely to hemorrhage
  • PCNSL: Avoid steroids before diagnostic biopsy when clinically safe — cause transient regression / nondiagnostic tissue (“ghost tumor”). Emergency exception: life-threatening mass effect/edema requires stabilization first (biopsy strategy may need adjustment).
  • Neurocutaneous syndromes: NF1 = chr 17, neurofibromas, optic glioma; NF2 = chr 22, bilateral vestibular schwannomas; TSC = mTOR, SEGA, treat with everolimus; VHL = chr 3, hemangioblastomas
  • Paraneoplastic: Cell-surface antibodies = treatable; intracellular antibodies = find the tumor, poor immunotherapy response
HighYield Pearls
  • WHO 2021 rule: molecular > histology — 3 adult diffuse gliomas only (astrocytoma IDH-mut, oligodendroglioma IDH-mut + 1p/19q, GBM IDH-WT)
  • GBM = grade 4 IDH-wildtype astrocytoma; TERT promoter mutation OR EGFR amplification OR +7/−10 qualifies as GBM even without necrosis
  • Oligodendroglioma REQUIRES both IDH mutation + 1p/19q codeletion — missing either = not oligo regardless of “fried egg” histology
  • CDKN2A/B homozygous deletion upgrades IDH-mutant astrocytoma to grade 4 even without histologic grade 4 features
  • Diffuse midline glioma, H3 K27-altered (incl DIPG) = grade 4 by definition; includes K27M mutation AND other mechanisms (H3 K27 trimethylation loss / EZHIP); thalamus/brainstem/spinal cord
  • Stupp protocol for GBM: max safe resection + concurrent TMZ/RT 6 wk + adjuvant TMZ (6–12 cycles) ± TTFields (Optune); MGMT methylation predicts TMZ response
  • PCNSL: Avoid steroids before biopsy when clinically safe (lymphocytolysis → “ghost tumor”); exception is life-threatening mass effect/edema (stabilize first). High-dose methotrexate backbone ± rituximab/cytarabine; avoid WBRT in elderly (neurotoxicity)
  • Prolactinoma: prolactin >200 ng/mL → cabergoline (dopamine agonist) first-line, NOT surgery
  • Brain mets at grey-white junction — lung #1 source, melanoma/RCC most likely to hemorrhage. ASTRO 2022: SRS for 1–4 lesions with reasonable PS; conditionally for selected 5–10; resect large symptomatic or diagnostic solitary lesions → postoperative cavity SRS preferred over WBRT for resected limited mets; reserve WBRT for diffuse/miliary, leptomeningeal, SCLC, or SRS-infeasible disease (use hippocampal-avoidance + memantine when WBRT is given)
  • Anti-epileptic choice in tumors: LEV/LCM/BRV (non-enzyme-inducing); avoid VPA with chemo (thrombocytopenia, hepatotoxicity)
  • Spinal drop mets screen entire spine: medulloblastoma, ependymoma, germ cell, CNS lymphoma
  • Bilateral vestibular schwannomas = NF2 until proven otherwise
🔍 Quick ReferenceClinical / imaging · Molecular / pathology · Treatment
Clinical / imaging
  • Ring-enhancing mass + central necrosis + edema, “butterfly” across corpus callosumGBM
  • Frontal lobe + calcification + chicken-wire vasculatureoligodendroglioma
  • Extra-axial dural-based mass + dural tail + homogeneous enhancementmeningioma
  • Sellar mass + bitemporal hemianopiapituitary adenoma
  • Asymmetric sensorineural hearing loss + IAC massvestibular schwannoma (bilateral = NF2)
  • Pediatric posterior fossa midline massmedulloblastoma
  • Pediatric cerebellar cyst with mural nodulepilocytic astrocytoma
  • Cortical “bubbly”/pseudocystic temporal lesion + drug-resistant focal epilepsyDNET
  • Temporal cystic + nodular enhancing lesion + chronic epilepsyganglioglioma
  • Periventricular homogeneously enhancing mass + restricted diffusion in HIV/immunocompromisedPCNSL
  • Ring-enhancing lesion(s) at grey-white junctionbrain metastasis
  • Nodular leptomeningeal/dural enhancement + cranial neuropathies + radiculopathiesleptomeningeal carcinomatosis
Molecular / pathology
  • “Fried egg” cells + chicken-wire vessels + calcificationoligodendroglioma (IDH-mut + 1p/19q)
  • Palisading necrosis + microvascular proliferationGBM
  • Psammoma bodies + whorls + EMA+meningioma
  • True ependymal rosettes + perivascular pseudorosettesependymoma
  • RELA fusion (supratentorial) or YAP1 fusionependymoma
  • Rosenthal fibers + eosinophilic granular bodies + BRAF::KIAA1549 fusionpilocytic astrocytoma
  • BRAF V600E + temporal epilepsy lesionganglioglioma (also PXA)
  • Diffuse midline glioma, H3 K27-altered (K27M mutation OR H3 K27 trimethylation loss / EZHIP) → grade 4 by definition (includes DIPG)
  • CDKN2A/B homozygous deletion in IDH-mut astrocytomagrade 4 prognosis
  • TERT promoter mutation / EGFR amplification / +7−10 in IDH-WT gliomaGBM
  • MGMT promoter methylationbetter TMZ response + improved survival
  • ATRX loss + p53 mutationastrocytoma IDH-mutant
Treatment / pearls
  • Stupp protocol (surgery + concurrent TMZ/RT + adjuvant TMZ ± TTFields)newly diagnosed GBM
  • PCV (procarbazine/CCNU/vincristine) + RToligodendroglioma (RTOG 9402/9802)
  • Vorasidenib (IDH1/2 inhibitor)grade 2 IDH-mutant glioma post-resection (INDIGO 2024)
  • Bevacizumabrecurrent GBM + symptomatic edema (watch for PRES, hemorrhage, thromboembolism)
  • Cabergoline / bromocriptine (dopamine agonist)prolactinoma (first-line, even macroadenoma)
  • Octreotide / lanreotide / pegvisomantGH-secreting acromegaly (post-transsphenoidal)
  • High-dose methotrexate ± rituximab + cytarabinePCNSL (avoid steroids before biopsy when clinically safe; emergency mass effect / edema is the exception)
  • Intrathecal methotrexate or cytarabineleptomeningeal carcinomatosis
  • SRS for 1–4 lesions (and selected 5–10); resect large symptomatic/diagnostic solitary lesions then postop cavity SRS; WBRT (+ HA + memantine) only for diffuse/miliary, leptomeningeal, SCLC, or SRS-infeasiblebrain metastases (ASTRO 2022)
  • LEV / LCM / BRV (non-enzyme-inducing AEDs)seizures in brain tumor patients
  • Methotrexateleukoencephalopathy + stroke-like syndrome; cisplatinneuropathy + ototoxicity + PRES; vincristineneuropathy + SIADH
  • Immune-checkpoint inhibitorsencephalitis / neuropathy / myositis / myasthenia overlap
WHO 2021 CNS Tumor Classification — Key Changes

Core Principles

  • Molecular over histology: Molecular markers override histologic appearance for classification
  • Grading is now within tumor type — NOT across types (e.g., grade 4 astrocytoma ≠ glioblastoma)
  • Three adult-type diffuse gliomas only: astrocytoma IDH-mutant, oligodendroglioma IDH-mutant + 1p/19q codeleted, glioblastoma IDH-wildtype
  • New entity: diffuse midline glioma, H3 K27-altered (replaces DIPG)

Key Molecular Markers

MarkerWhat It DefinesClinical Significance
IDH1/2 mutationAstrocytoma vs. glioblastomaIDH-mutant = better prognosis; IDH-wildtype = glioblastoma
1p/19q codeletionOligodendroglioma (required)Must have IDH mutation + 1p/19q codeletion; best prognosis among diffuse gliomas
ATRX lossAstrocytoma IDH-mutantMutually exclusive with 1p/19q codeletion
p53 mutationAstrocytoma IDH-mutantCommonly co-occurs with ATRX loss
TERT promoter mutationGlioblastoma IDH-wildtypeOne of three sufficient molecular criteria for GBM diagnosis (even without necrosis)
EGFR amplificationGlioblastoma IDH-wildtypeSufficient for GBM diagnosis regardless of grade
+7/−10Glioblastoma IDH-wildtypeCombined gain of chr 7 + loss of chr 10; sufficient for GBM diagnosis
MGMT methylationPredictive (not diagnostic)Predicts temozolomide response; methylated = better TMZ response
H3 K27M mutationDiffuse midline gliomaThalamus, brainstem, spinal cord; grade 4; devastating prognosis
BRAF V600EPleomorphic xanthoastrocytoma, papillary craniopharyngioma, some low-grade gliomasTargetable with BRAF inhibitors (vemurafenib, dabrafenib)
BRAF::KIAA1549 fusionPilocytic astrocytomaMost common pediatric brain tumor; WHO grade 1; benign
💎 Board Pearl
  • IDH-wildtype diffuse astrocytoma no longer exists. If a diffuse glioma is IDH-wildtype, it is classified as glioblastoma (grade 4) if it has ANY of: TERT promoter mutation, EGFR amplification, or +7/−10 — even without necrosis or microvascular proliferation
  • Grade 4 astrocytoma IDH-mutant ≠ glioblastoma. They are separate entities with different biology and prognosis
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