Neuro-oncology and related lesions are a small but diverse topic portion of the ABPN Neurology Board and RITE® exam. In this chapter, you will review high-yield neurologic cancers and cysts, and find many high-yield images and pathology. You should be able to quickly recognize each of the images on this page! Test your knowledge with our question bank and flashcards!

Authors: Megan Mantica MD, Caroline Goldin MD, and Brian Hanrahan MD

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Tumors of Neuroepithelial Tissue

Astrocytomas

    • A slow-growing astrocytic tumor composed of bipolar “hair-like” (pilocytic) cells.
    • Most common glioma in children.
    • Associated with tuberous sclerosis, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndrome.
      • Optic nerve and chiasm glioma are associated with NF1.
    • Often presents with symptoms of increased ICP (headache, nausea/vomiting), vision loss, ataxia, or cranial nerve deficits depending on location.
    • Imaging: Cystic mass with a contrast rim-enhancing nidus or mural nodule with minimal vasogenic edema, dorsally exophytic. Most commonly found in the cerebellum.
      • Also prefers midline structures such as the brainstem, optic chiasm, hypothalamus, and deep gray matter (basal ganglia).
        Pilocytic Astrocytoma
        Pilocytic Astrocytoma
    • KIAA1549-BRAF gene fusion is characteristic of this tumor type.

    • 90% 10-year overall survival. It can be treated with surgical resection alone, and rarely progresses to malignant glioma.
    • Classic patient presentation: Child presenting with increased ICP/ataxia, found to have a cerebellar cystic mass lesion with an enhancing mural nodule.

  • Subependymal giant cell astrocytoma (SGCA or SEGA)

    • WHO grade 1 tumor almost exclusively seen in pediatric patients with tuberous sclerosis (TS) and before the age of 20.
      • Seen in 5-15% of patients with TS.
    • Often asymptomatic, but when symptomatic presents with obstructive hydrocephalus due to location in the foramen of Monro.
    • Imaging: Well-circumscribed, partially-calcified intraventricular contrast-enhancing mass near the foramen of Monro.
      Subependymal Giant Cell Astrocytoma
      Subependymal Giant Cell Astrocytoma

    • Generally treated initially with mTOR inhibition with everolimus.
      • If acute symptomatic or growing, can be treated with surgical resection.
    • Tuberous Sclerosis Review: classically presents with seizures, mental retardation, and adenoma sebaceum. Associated with TSC2/tuberin (most cases) or TSC1/hamartin with cortical or subependymal tubers, hamartomas, renal angiomyolipomas, and cardiac rhabdomyomas.

  • Pleomorphic xanthoastrocytoma (PXA)

    • Found in young patients who present with temporal lobe epilepsy.
    • Imaging: Supratentorial peripheral cystic and contrast-enhancing mass abutting the leptomeninges with enhancing dural tail sign and scalloping of overlying bone.

    • Associated with BRAFV600E mutations and homozygous CDKN2A/B deletions.
    • Treated with surgical resection. However, local recurrence and malignant transformation are common so post-operative radiation is indicated for grade 3 tumors.

  • Adult-type diffuse gliomas

      • Astrocytoma, IDH-mutant (grades 2-4)
        • Patients present with progressive neurologic symptoms dependent on tumor location and/or with seizures.
        • Imaging: T2-FLAIR mismatch sign is often present, with T2 hyperintensity and relative hypointensity on FLAIR sequences.
          • MR Spectroscopy will have an elevated choline peak, low NAA peak, and elevated choline:creatinine ratio.
        • Pathology:
          • Grade 2: mitotic activity absent or low without microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor (homozygous deletion of CDKN2A/B).
          • Grade 3:  mitotic activity present without microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor.
            • Formally known as anaplastic astrocytoma.
          • Grade 4: microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor present.
      • Glioblastoma, IDH-wildtype (grade 4)
        • Formally known as glioblastoma multiforme (GBM).
        • The most common and also most destructive of the diffuse gliomas.
        • Imaging: Contrast ring-enhancing lesions with significant vasogenic edema. Lesions can also have internal necrosis and can extend through the corpus callosum (butterfly lesion).

        • Genetics:
          • IDH-1/2 mutations are associated with secondary GBM arising from a lower-grade glioma.
          • Tumors without microvascular proliferation or necrosis can still be classified as “molecular” glioblastoma if genetic testing shows TERT promoter mutation, EGFR gene amplification, or gain of 7/loss of 10 chromosome copy number alterations.
        • Pathology: Cells with increased mitotic activity with pseudopalisading necrosis and microvascular endothelial proliferation.

        • Treatment: Maximal safe resection followed by intensity-modulated radiation therapy (IMRT) plus concomitant temozolomide (alkylating chemotherapy) followed by adjuvant temozolomide.
          • Methylation of the MGMT gene is associated with better treatment response to temozolomide.
          • Bevacizumab, a monoclonal antibody that inhibits vascular endothelial growth factor (VEGF)  can be used in recurrent or progressive GBM.
          • Another alkylating agent, lomustine, is often used as a second-line treatment or in recurrent gliomas.
Characteristics of Astrocytomas Table
Abbreviations: IDH: Isocitrate dehydrogenase, ATRX: Alpha-thalassemia/mental retardation syndrome X-linked, EGFR: Epidermal growth factor receptor, MGMT: O6-methylguanine-DNA methyltransferase
Most common pediatric brain tumors by location infographic

Oligodendrogliomas

  • WHO grade 2 or WHO grade 3.
  • Associated with 1p/19q co-deletion and IDH mutations;
    • 1p/19q co-deletion patients have a better overall prognosis compared to astrocytic tumors which are 1p/19q normal.
  • Imaging: Partially calcified T2 heterogeneous, hyperintense subcortical/cortical mass with patchy or minimal contrast enhancement. Most often found cortically in the frontal or temporal lobes.
Oligodendroglioma, neuro-oncology, tumor
CTH (left) and T1 w/ contrast MRI (right) showing a right temporal calcified lesion with patchy contrast enhancement consistent with oligodendroglioma

Attributed by RadsWiki, CC BY-SA 3.0, via Wikimedia Commons, https://upload.wikimedia.org/wikipedia/commons/2/28/Oligodendroglioma_001.jpg, https://upload.wikimedia.org/wikipedia/commons/9/9b/Oligodendroglioma_007.jpg

  • Commonly occurs in the 4th or 5th decade of life.
  • Pathology: Cells with a “fried egg” appearance with monotonous round nuclei, surrounded by prominent perinuclear halos.
  • Treatment: Surgical resection followed by radiation and chemotherapy.

Ependymal Tumors

  • Ependymal tumors are classified based on a combination of factors including anatomic site, histopathology, and molecular features. 
  • Supratentorial ependymomas
    • More frequently in frontal and parietal lobes.
    • Imaging: irregular contrast enhancement, often with cysts or calcifications.
    • Most common molecular findings: fusion gene involving ZFTA or YAP1.
    • Treatment: surgical resection followed by radiation.
  • Posterior fossa ependymomas
    • Most frequently in the fourth ventricle; can arise in the cerebellopontine angle.
    • Clinical presentation related to mass effect/hydrocephalus from fourth ventricular obstruction.
      • Headache, vomiting, lethargy; rapid head circumference increase in infants.
    • Imaging: homogenous mass within the fourth ventricle.
  • Spinal ependymomas
    • Spinal ependymoma
      • Intradural, intramedullary lesion of the spinal cord.
      • Imaging: Contrast-enhancing, well-circumscribed lesion often associated with syrinx.
    • Myxopapillary ependymoma
      • Intradural, extramedullary lesion of the spinal cord, most often in the lumbar spine.
      • Imaging: Contrast-enhancing, well-circumscribed lesion; often described as “sausage-like” in appearance.
    • MCYN-amplified ependymoma
      • Intradural, extramedullary lesion of the spinal cord, most often in the cervical spine.
      • Aggressive compared to other ependymomas.
  • Subependymomas
    • WHO grade 1 tumor most often found incidentally in the ventricles.
    • Pathology: Monomorphic cells with round / oval nuclei and salt and pepper chromatin and perivascular pseudorosettes.

 

Ependymoma
H&E stain, Ependymoma showing fibrillary processes surrounding a vessel, creating a clearing between the tumor nuclei and the vessel, described as a perivascular pseudorosette (dashed white line).

Choroid Plexus Papilloma/Carcinoma

  • Arising from choroid plexus cells; often present in infants with symptoms of increased ICP due to overproduction of CSF.
  • Imaging: An intraventricular highly contrast-enhancing lesion usually located in the lateral or 4th ventricle.
  • Most occur before the age of 1 but can occur at any age.
  • Treatment: surgical resection.

Neuronal and mixed neuronal-glial tumors

  • Ganglioglioma

    • Low-grade tumor, but can be more aggressive
    • Imaging: A cystic mass with a mural nodule, often arising in the temporal lobe.
      • Can lead to refractory epilepsy.
    • Most common in children and young adults.
    • Can have BRAF mutations, IDH negative.

  • Desmoplastic infantile astrocytoma and ganglioglioma

    • WHO grade 1, often present before age 2, more often in males.
    • Presents with a rapid increase in head size.
    • Imaging: large cystic tumor with a peripheral solid component attached to the meninges of frontal or parietal lobes.
    • Treatment: surgical resection.

  • Dysembryonic neuroepithelial tumor (DNET)

    • WHO grade 1 tumor arising from cortical gray matter, associated with cortical dysplasia, most often in temporal lobes.
    • Characteristically causes temporal lobe epilepsy.

    • Imaging: A wedge-shaped cystic cortical mass lesion with a “soap-bubble” appearance, typically non-enhancing.
      Dysembryoplastic Neuroepithelial Tumor
      Dysembryonic neuroepithelial tumor (DNET): Note the “soap bubble” appearance and lack of enhancement.

Pineal region tumors

  • Pineoblastoma

    • Imaging: A calcified heterogeneous soft tissue mass in the pineal region with enhancement.
      Pineoblastoma
      Pineoblastoma
    • Seen primarily in children.
    • These lesions can lead to hydrocephalus secondary to mass effect.
    • Pathology: Densely cellular primitive neuroectodermal tumors that often form Homer Wright (medulloblastoma-type) rosettes.
    • Treatment: Gross total resection followed by radiation and chemotherapy.

  • Pineocytomas

    • Imaging: Contrast-enhancing midline lesion with irregular borders.
    • Patients often present with symptoms of hydrocephalus or mass effect.
    • Pathology: Small mature pinealocytes with round/ovoid nuclei forming pineocytomatous rosettes.
    • Treatment: Often curative with surgical resection alone.

Embryonal tumors

  • Medulloblastoma

    • Medulloblastoma is the most common malignant brain tumor in childhood (20–25% of pediatric CNS neoplasms).
    • Associated with Li-Fraumeni syndrome and familial adenomatous polyposis (FAP).
    • Imaging: A midline round lesion along the fourth ventricle between the brainstem and cerebellum.

    • Pathology: Homer-Wright rosettes with no lumen, with necrosis and pseudopalisades.

    • Medulloblastomas can seed and develop disseminated metastatic disease all along the neuraxis.
    • Treatment: Gross total resection followed by craniospinal irradiation and chemotherapy.

Tumors of the Meninges

Meningioma

  • Imaging: A well-circumscribed dural-based extra-axial diffuse and homogenous enhancing lesion with a “dural tail”.

  • Pathology: Calcified concentric psammoma bodies with a “whorled architecture”.
    Meningioma Biopsy Psammoma Bodies
    Low power H&E stain of a meningioma showing the whorled architecture of psammoma bodies.
  • Neurofibromatosis Type 2 (NF2) patients can present with multiple meningiomas.
    Multiple Meningiomas in NF Type 2
    Multiple Meningiomas in NF Type 2
  • Treatment: Observation for asymptomatic low-grade tumors. If symptomatic, resection is performed. Radiotherapy is considered if the meningioma is WHO grade 3.

Tumors of Cranial (and Spinal) Nerves

Schwannoma

  • Schwannomas most commonly arise on the CN VII/VIII complex but can arise on any cranial nerve except I and II, which do not have Schwann cells.
  • Patients tend to present with sensorineural hearing loss.
  • Imaging: Contrast-enhancing mass usually within the internal auditory canal or cerebellar pontine angle.
    Acoustic Schwannoma
    Acoustic Schwannoma
  • Pathology: Areas of compact elongated cells with nuclear palisades called Verocay bodies.
  • Bilateral acoustic schwannomas are pathognomonic for patients with NF2.

Neurofibroma

  • Benign tumors, typically on peripheral nerves.
  • Associated with neurofibromatosis type 1 (NF1).

Optic Nerve Glioma

  • Typically occurs on CN II and along the visual pathway.
  • Astrocytomas, either fibrillary (60%) or pilocytic (40%)

Carcinomatosis Meningitis

  • Presents with multiple cranial neuropathies.

Lymphomatous Meningitis

  • Presents with multiple cranial neuropathies.

Lymphomas and Hematopoietic Tumors

Hemangioblastoma

  • Imaging: Contrast-enhancing nodule surrounding a non-enhancing cyst in the posterior fossa with little vasogenic edema.
  • Pathology: Large vacuolated stromal cells and variably sized small vascular structures.
    Hemangioblastoma
    H&E stain showing fragments of a neoplasm composed of numerous thin-walled vessels lined with abundant vascular cells, and interspersed vacuolated stromal cells. Occasional stromal cells have large atypical and hyperchromatic nuclei. Additionally, there are focal areas of hemorrhage and hemosiderin deposition.
  • Commonly seen in patients with Von-Hippel Lindau (VHL) syndrome.

CNS Lymphoma

  • Imaging: CNS lymphoma can have a highly variable appearance ranging from diffusely infiltrative, to a solid margin, to lobulated margins. Lesions can have variable enhancement and possibly diffusion restriction. They tend to be located within the basal ganglia or periventricular white matter and can involve the corpus callosum. In immunocompetent patients, lesions are more likely unifocal and are uniformly contrast-enhancing. In immunocompromised patients, lesions may be multifocal and are ring-enhancing. 

  • Pathology: Positive staining for B cell marker, CD20.
    Primary CNS Lymphoma
    Low power view CD20 stain showing clusters of lymphocytes.
  • The elderly and immunocompromised patients are at risk of CNS lymphoma, especially if EBV positive.
  • Treatment: Standard initial treatment is combination therapy that includes high-dose methotrexate. In select patients, consolidative therapy with autologous stem cell transplant is performed after initial treatment.

Intravascular lymphoma:

  • Presents as a B-cell-driven disease that has multi-organ involvement that may involve the central nervous system.
  • If CNS involvement is present, patients present with multiple small brain infarcts.
  • Pathology: Lymphoma cells within the blood vessels.

Hemangiomas

  • Imaging: Lesion with a “popcorn appearance” with a perimeter of increased signal due to hemosiderin.
  • Lesions are at an increased risk of bleeding.

Multiple myeloma

  • Lesions will involve bony structures and can lead to compression fractures.
  • Imaging: “Salt and pepper” pattern with diffuse heterogeneous lesions of vertebrae.

Langerhans cell histiocytosis

  • Due to an uncontrolled monoclonal proliferation of Langerhans cells.
  • Pathology: Langerhans cells have large, convoluted, and folded nuclei and are CD1a positive.
    Langerhans Cell Histiocytosis
    H&E stain showing cells with abundant, pale eosinophilic cytoplasm, irregular and elongated nuclei.
  • More common in children and female predominant.
  • Imaging: Lytic lesions in the skull and severe vertebral compression fractures with vertebra plana configuration.
    Langerhans Histiocytosis
    Langerhans Histiocytosis

Germ Cell Tumors

Germinoma

  • Most common pineal region neoplastic lesion.
  • Imaging: Solid, contrast-enhancing midline pineal mass near the 3rd ventricle.
    Germinoma
    Germinoma
  • Pathology: Small reactive lymphocytes and large neoplastic germ cells with clear cytoplasm. They are histologically similar to cells in the ovaries and testes.

  • Males are at a much higher risk than females.
  • Should be considered in patients who are young and develop diabetes insipidus.

Sella Region Tumors

Craniopharyngioma

  • Imaging: Partially calcified cystic/solid multi-compartmental suprasellar mass.

  • Derived from Rathke pouch epithelium.

Rathke Cleft Cyst (RCC): Noncalcified, less heterogeneous, look for an intracystic nodule, does not enhance, “claw” sign (enhancing pituitary draped around cyst).

Suprasellar Arachnoid Cyst: Noncalcified, no enhancement.

Hypothalamic/Chiasmatic Astrocytoma: Solid or with small cystic/necrotic components, calcification is rare; robust enhancement common.

Pituitary Adenoma: Rare in prepubescent children, isointense with the brain, enhances strongly, can mimic CP when cystic and hemorrhagic.

(Epi-)Dermoid Tumors: Minimal or no enhancement.

Thrombosed Aneurysm: Contains blood products, look for residual patent lumen, phase artifact.

Germinoma or Mixed Germ Cell Tumor with Cystic Component(s):  CSF spread common, calcification is rare.

Pituitary macroadenoma

  • Most common suprasellar mass in adults.
  • Can lead to compression of the optic chiasm.
  • Imaging: A large, enhancing sellar/suprasellar mass.
 

Diagram of pituitary tumor
Optic Nerve Compression Secondary to a Pituitary Tumor

Pituitary microadenoma

  • Imaging: Small focal hypointense sellar mass.
  • Prolactinoma is the most common secretory pituitary adenoma.
    • Bromocriptine and cabergoline can be used to suppress prolactin secretion.

Hypothalamic hamartoma

  • Imaging: A round, non-enhancing, iso-intense mass in the hypothalamus, superior to the infundibulum.
  • Patients can present with precocious puberty and/or gelastic seizures.

Cysts and other lesions

Colloid cyst

  • Imaging: A hyperdense non-enhancing epithelial-lined cyst of the foramen of Monro.

  • Lesions are at risk of developing obstructive hydrocephalus.
    • Presents with intermittent or persistent headaches due to the increased intracranial pressure from obstruction of CSF outflow.
  • The peak age of onset is the third to fourth decade of life.
  • Treatment: microsurgically, endoscopically, or with biventricular shunts in nonsurgical candidates.

Epidermoid cyst

  • Imaging: An extra-axial mass with a cystic appearance.
    • Will be low density and similar to CSF on CT scan, like an arachnoid cyst.

Synovial cyst

  • Synovial cysts can form adjacent to any joint throughout the body. If they occur in the spine they can occur in the cervical, thoracic, or lumbar regions.
  • Imaging: A well-circumscribed, smooth, extra-dural lesion adjacent to facet joints. Calcification within the cyst can also occur.
  • Presenting symptoms include radicular pain and symptoms related to the compression of the adjacent root.

Rathke cleft cyst

  • Imaging: Cystic lesion of the pituitary stalk.
  • Patients will commonly present with pituitary dysfunction.

Arachnoid cyst

  • Arachnoid cysts are extra-axial, congenital space-occupying lesions that displace parenchymal brain tissue and usually are asymptomatic.
  • Imaging: A fluid collection that is isodense/isointense to CSF on all sequences (CT, MRI, FLAIR, DWI).

Mucocele

  • Imaging: Opacification of the sinus.
  • Mucoceles are at risk for abscess formation.

Lipoma

  • Imaging: An intradural extramedullary sharply circumscribed homogenous mass .
    • If found intracranially they may be near the corpus callosum.
Intraspinal Lipoma
Intraspinal Lipoma

Familial Tumor Syndromes of the CNS

Neurofibromatosis type I (NF-1)

  • Also known as von Recklinghausen disease.
  • Autosomal dominant disease related to the NF1 gene, which codes for neurofibromin.
  • Non-neurologic findings include café-au-lait spots, Lisch nodules, skeletal abnormalities, and axillary freckling.
  • Neurologic lesions:
    • Optic nerve gliomas
      • Patients should have yearly eye exams.
      • Typically found in the first 6 years of life. 
      • Small asymptomatic gliomas can be observed, as they may regress. Larger, symptomatic lesions are treated with chemotherapy.
    • Neurofibromas
      • Neurofibromas occur on cutaneous branches of peripheral nerves, including neuronal roots and plexuses. They tend to be slow-growing and can remodel the surrounding bone.
      • Lesions encase the nerve and are contrast-enhancing.

Neurofibromatosis Type II (NF2)

  • Also known as central neurofibromatosis.
  • Autosomal dominant disorder related to the NF2 gene, which codes for merlin on chromosome 22.
  • Presents with vestibular schwannomas and multiple meningiomas.
    • Can have bilateral acoustic neuromas. Patients usually present in their 20s with tinnitus.
  • These patients do not form neurofibromas!

Tuberous Sclerosis

  • Autosomal neurocutaneous disorder related to two tumor-suppressor genes: TSC1 (9q34) which encodes hamartin and TSC2 (16q13) which encodes tuberin.
  • Imaging will show cortical tubers which can be foci for seizures.
  • Seizures commonly occur secondary to cortical tubers.
  • Non-neurologic findings include ash-leaf spots, facial angiofibromas, angiomyolipomas, and retinal hamartomas.
  • Intellectual disability can occur in severe cases.
  • 5-10% of patients can develop subependymal giant cell astrocytomas.
Note numerous scattered areas of abnormal T2 signal hyperintensity and cortical thickening consistent with cortical and subcortical tubers consistent with tuberous sclerosis

Mnemonic: Think TUBERRRS: Tsc2, U(ventricular), Bulk removal, Eosinophilic Rhabdomyosarcoma/Renal angiomyolipoma/Retinal Hamartomas, Seizures

Sturge-Weber Syndrome (SWS)

  • a.k.a. Encephalotrigeminal angiomatosis
  • A neurocutaneous disorder caused by a spontaneous somatic GNAQ gene mutation on chromosome 9 that manifests in a mosaic pattern. Because this mutation is somatic (occurs after conception), it is not inherited.
  • Classic “port-wine stain” (cutaneous angioma) on the face with ipsilateral angiomatosis 
  • Imaging:
    • CT head: Parenchymal calcification adjacent to the angiomatosis.
    • MRI: Contrast enhancing angiomatosis of the leptomeninges and cortex (seen as “tram track sign” on MRI).
  • Variable presentation from asymptomatic to seizures, weakness, etc.
    • Cobb’s Syndrome: SWS with spinal dural angioma in the spinal cord with a port-wine stain in the corresponding dermatome.

Von Hippel Lindau (VHL)

  • An autosomal dominant disorder that leads to the upregulation of vascular endothelial growth factor.
  • Patients develop infratentorial hemangioblastomas and retinal angiomas.
  • Non-CNS manifestations include renal cell carcinoma, pheochromocytomas, and pancreatic and renal cysts.
Mnemonic: VHL: Visceral cysts (kidney, pancreas, genitals), Hemangioblastomas, Light-Sensitive (i.e. Retinal involvement)

Li-Fraumeni

  • Autosomal dominant disorder due to mutations of the p53 gene.
  • Patients present with tumors at various sites including breast, bone, blood, and adrenal glands.
  • CNS tumors include astrocytomas, medulloblastomas, and less commonly primitive neuroectodermal tumors (PNETs).

Cowden syndrome

  • Autosomal dominant disease secondary to the PTEN tumor suppressor gene.
  • Patients present with multiple hamartomas in various tissues, especially the skin and colon.

  • Presents in young adults with cerebellar dysfunction or obstructive hydrocephalus.
  • Pathology: Abnormal ganglion cells.

Turcot syndrome

  • Also known as mismatch repair cancer syndrome.
  • Patients present with multiple colon polyps and an increased risk of colorectal and brain cancers (glioblastoma, medulloblastoma, SGCA)

Metastatic cancer

Intraparenchymal metastasis

  • Imaging: Lesion(s) of intense contrast enhancement surrounded by mild to moderate edema usually at the grey-white junction.
  • The most common sources of CNS metastases: Lung (~40-50%) >> breast (~15-20%) > melanoma and GI (~10% each). (These percentages are incidences of CNS metastases cases caused by each cancer).
    • Melanoma and Renal Cell Carcinoma (RCC) are the most likely metastatic tumors to cause hemorrhage (~40% risk in each).
    • Breast cancer can have meningeal infiltration.

Leptomeningeal carcinomatosis

  • Imaging: Contrast enhancement along the leptomeninges.

Leptomeningeal Carcinomatosis

  • When on the differential, patients should have the whole neuraxis imaged to look for additional lesions as well as CSF analysis.
  • Obstruction of CSF re-absorption from the malignancy can lead to communicating hydrocephalus. Patients will present with severe headaches, nausea, and vomiting.
    • Symptoms can improve with large volume lumbar puncture or EVD placement.

Paraneoplastic disorders

  • Symptoms often precede cancer diagnosis and thus patients require cancer surveillance for a minimum of 2 years after symptom onset.

Limbic encephalitis

  • Most associated with SCLC. testicular germ cell tumors or ovarian teratoma.
  • Several antibodies are related to paraneoplastic disorders including anti-Hu, voltage-gated potassium channels, NMDA receptors, etc (see table below).
  • Slightly more than half of patients with autoimmune limbic encephalitis have detectable CNS antibodies.
  • Patients will present with psychiatric/cognitive abnormalities, seizures, facial and limb dyskinesias, and autonomic instability.
  • Imaging will show abnormalities in cortical and subcortical regions.

  • Young women who present with this syndrome should be evaluated for ovarian teratoma.

Paraneoplastic cerebellar degeneration

  • Presents with a subacute progression of ataxia, nystagmus, and dysarthria.
  • Gynecological (ovarian, uterine, breast) and small-cell lung cancers are common causes.
  • Pathology: Profound loss of Purkinje cells.

  • MRI: often normal, may have some enhancement near the cerebellum, and may have cerebellar atrophy.
  • Recovery is slow or partial (postmortem studies show permanent loss of Purkinje cells).

Lambert-Eaton Myasthenic Syndrome (LEMS)

  • Presents with proximal weakness and fatigability, impotence, and ptosis.
  • May be associated with paraneoplastic encephalomyelitis and cerebellar degeneration.
  • 70% of patients have cancer (most often SCLC).
  • For more information see the Neuromuscular Junction Disease chapter.

Other paraneoplastic syndromes

  • Myasthenia gravis (thymoma)
  • Subacute sensory neuronopathy
  • Opsoclonus-myoclonus syndrome
    • Presents with rapid, high-amplitude conjugate eye movements (opsoclonus), myoclonus, ataxia, and ataxia.
    • Related to neuroblastoma in children, and breast, ovarian, or small cell lung cancer in adults.
      Neuroblastoma with rosettes on micro pathology slide
      Neuroblastoma with Rosettes

  • Stiff-person syndrome
    • Association with anti-amphiphysin (paraneoplastic) or anti-GAD (more often autoimmune than paraneoplastic).
  • Neuro-myotonia
  • Dysautonomia
  • Myelopathy

Paraneoplastic/Autoimmune Antibody Chart

Paraneoplastic/Autoimmune antibody chart
Paraneoplastic/Autoimmune antibody chart

Identifying Tumors by Characteristic

References

  1. Khan, Amir M., and Federico Girardi. “Spinal Lumbar Synovial Cysts. Diagnosis and Management Challenge.” European Spine Journal, vol. 15, no. 8, 2006, pp. 1176–1182., doi:10.1007/s00586-005-0009-4.
  2. Kufe, Donald W., and James F. Holland. Holland Frei Cancer Medicine. BC Decker, 2006.
  3. O’callaghan, F. J K. “Early Diagnosis of Subependymal Giant Cell Astrocytoma in Children with Tuberous Sclerosis.” Journal of Neurology, Neurosurgery & Psychiatry, vol. 68, no. 1, Jan. 2000, doi:10.1136/jnnp.68.1.118a.
  4. Frankel SA and German WJ: Glioblastoma multiforme. Review of 219 cases with regard to natural history, pathology, diagnostic methods and treatment. J Neurosurg 15:489–503.
  5. Grommes, C., DeAngelis, L., 2017. “Primary CNS Lymphoma,” Journal of Clinical Oncology, 35(21):2410-8.
  6. Stupp, Roger, et al. “‘Radiotherapy plus Concomitant and Adjuvant Temozolomide for Glioblastoma.’” Oncology Times, vol. 27, no. 9, 2005, pp. 15–16., doi:10.1097/01.cot.0000289242.47980.f9.
  7. Nayak, L., Lee, E. Q., & Wen, P. Y. (2012). Epidemiology of brain metastases. Current oncology reports, 14(1), 48-54.

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