Tumors & Cysts Flashcards
astrocytoma
slow-growing astrocytic tumor composed of bipolar “hair-like” (pilocytic) cells
most common glioma in children
astrocytoma associations
tuberous sclerosis, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndrome
- optic nerve and chiasm glioma associated with NF1
astrocytoma presentation
symptoms of increased ICP (headache, nausea/vomiting), vision loss, ataxia, or cranial nerve deficits depending on location
astrocytoma on 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)
astrocytoma genes
KIAA1549-BRAF gene fusion is characteristic of this tumor type
astrocytoma pathology
hair-like cytoplasmic fibers (Rosenthal fibers) and eosinophilic granular bodies in stacked bipolar cells
astrocytoma prognosis
90% 10-year overall survival
can be treated with surgical resection alone, and rarely progresses to malignant glioma
classic patient presentation of astrocytoma
child presenting with increased ICP/ataxia found to have a cerebellar cystic mass lesion with enhancing mural nodule
subependymal giant cell astrocytoma (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
SEGA symptoms
often asymptomatic
but when symptomatic presents with obstructive hydrocephalus due to location in the foramen of Monro
SEGA imaging
well-circumscribed, partially-calcified intraventricular contrast-enhancing mass near the foramen of Monro
SEGA pathology
large polygonal cells with eosinophilic cytoplasm and a smaller number of giant pyramidal ganglioid astrocytes
SEGA treatment
generally treated initially with mTOR inhibition with everolimus
if acutely 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
pleomorphic xanthoastrocytoma (PXA) imaging
supratentorial peripheral cystic and contrast-enhancing mass abutting the leptomeninges with enhancing dural tail sign and scalloping of overlying bone
pleomorphic xanthoastrocytoma (PXA) pathology
variable histological features (thus, pleomorphic) with spindle cells, polygonal cells, multinucleated cells, highly variable nuclear size, and astrocytes with eosinophilic granular bodies
pleomorphic xanthoastrocytoma (PXA) genetics
associated with BRAFV600E mutations and homozygous CDKN2A/B deletions
pleomorphic xanthoastrocytoma (PXA) treatment
surgical resection
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)
glioblastoma, IDH-wildtype (grade 4)
astrocytoma, IDH-mutant
patients present with progressive neurologic symptoms dependent on tumor location and/or with seizures
astrocytoma, IDH-mutant imaging
T2-FLAIR mismatch sign 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
astrocytoma, IDH-mutant 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)
astrocytoma, IDH-mutant pathology grade 3
mitotic activity present without microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor
- formally known as anaplastic astrocytoma
astrocytoma, IDH-mutant pathology 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)
most common and most destructive of the diffuse gliomas
glioblastoma, IDH-wildtype (grade 4) imaging
contrast ring-enhancing lesions with significant vasogenic edema. lesions can also have internal necrosis and can extend through the corpus callosum (butterfly lesion)
glioblastoma, IDH-wildtype (grade 4) 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 a “molecular” glioblastoma if genetic testing shows TERT promotor mutation, EGFR gene amplification, or gain of 7/loss of 10 chromosome copy number alterations
glioblastoma, IDH-wildtype (grade 4) pathology
cells with increased mitotic activity with pseudopalisading necrosis and microvascular endothelial proliferation
glioblastoma, IDH-wildtype (grade 4) treatment
maximal safe resection followed by intensity-modulated radiation therapy (IMRT) plus concomitant temozolomide (alkylating chemotherapy) followed by adjuvant temozolomide
- methylation of MGMT gene 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
high yield gliomas
pilocytic astrocytoma (Grade 1)
diffuse astrocytoma (grade 2)
anaplastic astrocytoma (grade 3)
glioblastoma (grade 4)
pilocytic astrocytoma: grade
1
pilocytic astrocytoma: cell of origin
astrocyte
pilocytic astrocytoma: typical age
children, young adults
pilocytic astrocytoma: location
cerebellum, optic pathway
pilocytic astrocytoma: imaging
cystic mass with enhancing nodule
pilocytic astrocytoma: key molecular markers
BRAF-KIAA1549 fusion
pilocytic astrocytoma: MGMT status
not typically assessed
pilocytic astrocytoma: histology
biphasic (compact and loose areas), Rosenthal fibers
pilocytic astrocytoma: prognosis
excellent, often curable
pilocytic astrocytoma: treatment
surgery alone often curable
diffuse astrocytoma: grade
2
diffuse astrocytoma: cell of origin
astrocytes
diffuse astrocytoma: typical age
30-40 years
diffuse astrocytoma: location
cerebral hemispheres
diffuse astrocytoma: imaging
T2/FLAIR hyperintense, non-enhancing
diffuse astrocytoma: key molecular markers
IDH mutation, ATRX loss
diffuse astrocytoma: MGMT status
often methylated
diffuse astrocytoma: histology
low cellularity, no mitoses
diffuse astrocytoma: prognosis
5-year survival: 65-70%
diffuse astrocytoma: treatment
surgery, RT if progression
anaplastic astrocytoma: grade
3
anaplastic astrocytoma: cell of origin
astrocytes
anaplastic astrocytoma: typical age
40-50 years
anaplastic astrocytoma: location
cerebral hemispheres
anaplastic astrocytoma: imaging
T2/FLAIR hyperintense, may enhance
anaplastic astrocytoma: key molecular markers
IDH mutation, ATRX loss
anaplastic astrocytoma: MGMT status
often methylated
anaplastic astrocytoma: histology
increased cellularity, mitoses
anaplastic astrocytoma: prognosis
5-year survival: 25-30%
anaplastic astrocytoma: treatment
surgery, RT, +/- chemotherapy
glioblastoma: grade
4
glioblastoma: cell of origin
astrocytes
glioblastoma: typical age
50-60 years
glioblastoma: location
cerebral hemispheres
glioblastoma: imaging
enhancing mass with necrosis and edema
glioblastoma: key molecular markers
IDH wildtype (primary), EGFR amplification
glioblastoma: MGMT status
variable
glioblastoma: histology
high cellularity, mitoses, necrosis, microvascular proliferation
glioblastoma: prognosis
median survival: 12-15 months
glioblastoma: treatment
surgery, RT, chemotherapy (TMZ)
IDH
isocitrate dehydrogenase
ATRX
alpha-thalassemia/mental retardation syndrome X-linked
EGFR
epidermal growth factor receptor
MGMT
O6-methylguanine-DNA methyltransferase
TMZ
temozolomide
location of pediatric brain tumors by age: <3
supratentorial > infratentorial
location of pediatric brain tumors by age: 3-10 years old
infratentorial > supratentorial
location of pediatric brain tumors by age: 10+ years old
supratentorial = infratentorial
most common pediatric brain tumors: suprasellar
craniopharyngioma
optic hypothalamic glioma
most common pediatric brain tumors: overall
pilocytic astrocytoma
medulloblastoma
ependymoma
most common pediatric brain tumors: supratentorial/cerebral hemispheres
pilocytic astrocytoma
ganglioglioma
PXA pleomorphic xanthoastrocytoma
most common pediatric brain tumors: infratentorial/cerebellar
medulloblastoma
pilocytic astrocytoma
ependymoma
oligodendrogliomas: WHO grade
2 or 3
oligodendrogliomas: molecular markers
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
oligodendrogliomas: imaging
partially calcified T2 heterogeneous, hyperintense subcortical/cortical mass with patchy or minimal contrast enhancement
oligodendrogliomas: location
most often found cortically in the frontal or temporal lobesq
oligodendrogliomas: typical age
4th or 5th decade of life
oligodendrogliomas: pathology
cells with a “Fried egg” appearance with monotonous round nuclei, surrounded by prominent perinuclear halos
oligodendrogliomas: treatment
surgical resection followed by radiation and chemotherapy
ependyma tumors classification
based on anatomic site, histopathology, and molecular features
supratentorial ependymomas: location
more frequently in frontal and parietal lobes
supratentorial ependymomas: imaging
irregular contrast enhancement, often with cysts or calcifications
supratentorial ependymomas: molecular findings
fusion gene involving ZFTA or YAP1
supratentorial ependymomas: treatment
surgical resection followed by radiation
posterior fossa ependymomas: location
most frequently in the fourth ventricle, can arise in the cerebellopontine angle
posterior fossa ependymomas: presentation
related to mass effect/hydrocephalus from fourth ventricular obstruction
- headache, vomiting, lethargy, rapid head circumference increase in infants
posterior fossa ependymomas: imaging
homogenous mass within the fourth ventricle
spinal ependymoma: location
intradural, intramedullary lesion of the spinal cord
spinal ependymoma: imaging
contrast-enhancing, well-circumscribed lesion often associated with syrinx
myxopapillary ependymoma: location
intradural, extramedullary lesion of the spinal cord, most often in the lumbar spine
myxopapillary ependymoma: imaging
contrast-enhancing, well-circumscribed lesion; often described as “sausage-like” in appearance
MYCN-amplified ependymoma: location
intradural, extramedullary lesion of the spinal cord, most often in the cervical spine
MYCN-amplified ependymoma: prognosis
aggressive compared to other ependymomas
spinal ependymomas
spinal ependymoma
myxopapillary ependymoma
MYCN-amplified ependymoma
subependymoma: grade
WHO grade 1
subependymoma: location
most often found incidentally in the ventricles
subependymoma: pathology
monomorphic cells with round/oval nuclei and salt and pepper chromatin and perivascular pseudorosettes
choroid plexus papilloma/carcinoma: cells of origin
choroid plexus cells
choroid plexus papilloma/carcinoma: typical age
often presents in infants, most occurring before age 1 but can occur at any age
choroid plexus papilloma/carcinoma: presentation
symptoms of increased ICP due to overproduction of CSF
choroid plexus papilloma/carcinoma: imaging
an intraventricular highly contrast-enhancing lesion usually located in the lateral or 4th ventricle
choroid plexus papilloma/carcinoma: treatment
surgical resection
neuronal and mixed neuronal-glial tumors
ganglioglioma
desmoplastic infantile astrocytoma and ganglioma
dysembrionic neuroepithelial tumor (DNET)
central neurocytoma
ganglioglioma: grade
low-grade tumor, but can be more aggressive
ganglioglioma: imaging
cystic mass with a mural nodule
ganglioglioma: location
often arising in the temporal lobe
ganglioglioma: presentation
can often lead to refractory epilepsy
ganglioglioma: typical age
most common in children and young adults
ganglioglioma: key molecular markers
BRAF mutations, IDH negative
ganglioglioma: pathology
biphasic tumors with neuronal and glial elements
which tumors are associated with BRAF mutations?
pilocytic astrocytoma
PXA
ganglioglioma
desmoplastic infantile astrocytoma and ganglioglioma: grade
WHO grade 1
desmoplastic infantile astrocytoma and ganglioglioma: typical age
often before age 2, more often in males
desmoplastic infantile astrocytoma and ganglioglioma: presentation
rapid increase in head size
desmoplastic infantile astrocytoma and ganglioglioma: imaging
large cystic tumor with a peripheral solid component attached to the meninges of frontal or parietal lobes
desmoplastic infantile astrocytoma and ganglioglioma: treatment
surgical resection
desmoplastic infantile astrocytoma and ganglioglioma: location
meninges of frontal or parietal lobes
dysembrionic neuroepithelial tumor (DNET): grade
grade 1 tumor
dysembrionic neuroepithelial tumor (DNET): location
cortical gray matter associated with cortical dysplasia most often in temporal lobes
dysembrionic neuroepithelial tumor (DNET): complications
temporal lobe epilepsy
dysembrionic neuroepithelial tumor (DNET): pathology
myxoid clear areas with floating neurons
dysembrionic neuroepithelial tumor (DNET): imaging
wedge-shaped cystic cortical mass lesion with a “soap-bubble” appearance, typically non-enhancing
central neurocytoma: grade
grade 2
central neurocytoma: presentation
signs/symptoms of increased ICP
central neurocytoma: imaging
a cystic/bubbly lesion within the lateral ventricle near the foramen of Monro, often attached to the septum pellucidum
central neurocytoma: pathology
neurocytic rosettes and uniform round blue cells. they are “neurocytic” in morphology and may closely resemble oligodendrogliomas, but with no IDH mutation or 1p/19q co-deletion
central neurocytoma: treatment
surgical resection
pineal region tumors
pineoblastoma
pineocytoma
pineoblastoma: imaging
calcified heterogenous soft tissue mass in the pineal region with enhancement
pineoblastoma: typical age
seen primarily in children
pineoblastoma: presentation
can lead to hydrocephalus secondary to mass effect
pineoblastoma: pathology
densely cellular primitive neuroectodermal tumors that often form Homer Wright (medulloblastoma-type) rosettes