Tumors & Cysts Flashcards
1
Q
astrocytoma
A
slow-growing astrocytic tumor composed of bipolar “hair-like” (pilocytic) cells
most common glioma in children
2
Q
astrocytoma associations
A
tuberous sclerosis, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndrome
- optic nerve and chiasm glioma associated with NF1
3
Q
astrocytoma presentation
A
symptoms of increased ICP (headache, nausea/vomiting), vision loss, ataxia, or cranial nerve deficits depending on location
4
Q
astrocytoma on imaging
A
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)
5
Q
astrocytoma genes
A
KIAA1549-BRAF gene fusion is characteristic of this tumor type
6
Q
astrocytoma pathology
A
hair-like cytoplasmic fibers (Rosenthal fibers) and eosinophilic granular bodies in stacked bipolar cells
7
Q
astrocytoma prognosis
A
90% 10-year overall survival
can be treated with surgical resection alone, and rarely progresses to malignant glioma
8
Q
classic patient presentation of astrocytoma
A
child presenting with increased ICP/ataxia found to have a cerebellar cystic mass lesion with enhancing mural nodule
9
Q
subependymal giant cell astrocytoma (SEGA)
A
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
10
Q
SEGA symptoms
A
often asymptomatic
but when symptomatic presents with obstructive hydrocephalus due to location in the foramen of Monro
11
Q
SEGA imaging
A
well-circumscribed, partially-calcified intraventricular contrast-enhancing mass near the foramen of Monro
12
Q
SEGA pathology
A
large polygonal cells with eosinophilic cytoplasm and a smaller number of giant pyramidal ganglioid astrocytes
13
Q
SEGA treatment
A
generally treated initially with mTOR inhibition with everolimus
if acutely symptomatic or growing, can be treated with surgical resection
14
Q
Tuberous sclerosis review
A
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
15
Q
pleomorphic xanthoastrocytoma (PXA)
A
found in young patients who present with temporal lobe epilepsy
16
Q
pleomorphic xanthoastrocytoma (PXA) imaging
A
supratentorial peripheral cystic and contrast-enhancing mass abutting the leptomeninges with enhancing dural tail sign and scalloping of overlying bone
17
Q
pleomorphic xanthoastrocytoma (PXA) pathology
A
variable histological features (thus, pleomorphic) with spindle cells, polygonal cells, multinucleated cells, highly variable nuclear size, and astrocytes with eosinophilic granular bodies
18
Q
pleomorphic xanthoastrocytoma (PXA) genetics
A
associated with BRAFV600E mutations and homozygous CDKN2A/B deletions
19
Q
pleomorphic xanthoastrocytoma (PXA) treatment
A
surgical resection
local recurrence and malignant transformation are common so post-operative radiation is indicated for grade 3 tumors
20
Q
adult-type diffuse gliomas
A
astrocytoma, IDH-mutant (grades 2-4)
glioblastoma, IDH-wildtype (grade 4)
21
Q
astrocytoma, IDH-mutant
A
patients present with progressive neurologic symptoms dependent on tumor location and/or with seizures
22
Q
astrocytoma, IDH-mutant imaging
A
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
23
Q
astrocytoma, IDH-mutant pathology grade 2
A
mitotic activity absent or low without microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor (homozygous deletion of CDKN2A/B)
24
Q
astrocytoma, IDH-mutant pathology grade 3
A
mitotic activity present without microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor
- formally known as anaplastic astrocytoma
25
astrocytoma, IDH-mutant pathology grade 4
microvascular proliferation, necrosis, or genetic markers that would upgrade the tumor present
26
glioblastoma, IDH-wildtype (grade 4)
formally known as glioblastoma multiforme (GBM)
most common and most destructive of the diffuse gliomas
27
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)
28
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
29
glioblastoma, IDH-wildtype (grade 4) pathology
cells with increased mitotic activity with pseudopalisading necrosis and microvascular endothelial proliferation
30
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
31
high yield gliomas
pilocytic astrocytoma (Grade 1)
diffuse astrocytoma (grade 2)
anaplastic astrocytoma (grade 3)
glioblastoma (grade 4)
32
pilocytic astrocytoma: grade
1
33
pilocytic astrocytoma: cell of origin
astrocyte
34
pilocytic astrocytoma: typical age
children, young adults
35
pilocytic astrocytoma: location
cerebellum, optic pathway
36
pilocytic astrocytoma: imaging
cystic mass with enhancing nodule
37
pilocytic astrocytoma: key molecular markers
BRAF-KIAA1549 fusion
38
pilocytic astrocytoma: MGMT status
not typically assessed
39
pilocytic astrocytoma: histology
biphasic (compact and loose areas), Rosenthal fibers
40
pilocytic astrocytoma: prognosis
excellent, often curable
41
pilocytic astrocytoma: treatment
surgery alone often curable
42
diffuse astrocytoma: grade
2
43
diffuse astrocytoma: cell of origin
astrocytes
44
diffuse astrocytoma: typical age
30-40 years
45
diffuse astrocytoma: location
cerebral hemispheres
46
diffuse astrocytoma: imaging
T2/FLAIR hyperintense, non-enhancing
47
diffuse astrocytoma: key molecular markers
IDH mutation, ATRX loss
48
diffuse astrocytoma: MGMT status
often methylated
49
diffuse astrocytoma: histology
low cellularity, no mitoses
50
diffuse astrocytoma: prognosis
5-year survival: 65-70%
51
diffuse astrocytoma: treatment
surgery, RT if progression
52
anaplastic astrocytoma: grade
3
53
anaplastic astrocytoma: cell of origin
astrocytes
54
anaplastic astrocytoma: typical age
40-50 years
55
anaplastic astrocytoma: location
cerebral hemispheres
56
anaplastic astrocytoma: imaging
T2/FLAIR hyperintense, may enhance
57
anaplastic astrocytoma: key molecular markers
IDH mutation, ATRX loss
58
anaplastic astrocytoma: MGMT status
often methylated
59
anaplastic astrocytoma: histology
increased cellularity, mitoses
60
anaplastic astrocytoma: prognosis
5-year survival: 25-30%
61
anaplastic astrocytoma: treatment
surgery, RT, +/- chemotherapy
62
glioblastoma: grade
4
63
glioblastoma: cell of origin
astrocytes
64
glioblastoma: typical age
50-60 years
65
glioblastoma: location
cerebral hemispheres
66
glioblastoma: imaging
enhancing mass with necrosis and edema
67
glioblastoma: key molecular markers
IDH wildtype (primary), EGFR amplification
68
glioblastoma: MGMT status
variable
69
glioblastoma: histology
high cellularity, mitoses, necrosis, microvascular proliferation
70
glioblastoma: prognosis
median survival: 12-15 months
71
glioblastoma: treatment
surgery, RT, chemotherapy (TMZ)
72
IDH
isocitrate dehydrogenase
73
ATRX
alpha-thalassemia/mental retardation syndrome X-linked
74
EGFR
epidermal growth factor receptor
75
MGMT
O6-methylguanine-DNA methyltransferase
76
TMZ
temozolomide
77
location of pediatric brain tumors by age: <3
supratentorial > infratentorial
78
location of pediatric brain tumors by age: 3-10 years old
infratentorial > supratentorial
79
location of pediatric brain tumors by age: 10+ years old
supratentorial = infratentorial
80
most common pediatric brain tumors: suprasellar
craniopharyngioma
optic hypothalamic glioma
81
most common pediatric brain tumors: overall
pilocytic astrocytoma
medulloblastoma
ependymoma
82
most common pediatric brain tumors: supratentorial/cerebral hemispheres
pilocytic astrocytoma
ganglioglioma
PXA pleomorphic xanthoastrocytoma
83
most common pediatric brain tumors: infratentorial/cerebellar
medulloblastoma
pilocytic astrocytoma
ependymoma
84
oligodendrogliomas: WHO grade
2 or 3
85
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
86
oligodendrogliomas: imaging
partially calcified T2 heterogeneous, hyperintense subcortical/cortical mass with patchy or minimal contrast enhancement
87
oligodendrogliomas: location
most often found cortically in the frontal or temporal lobesq
88
oligodendrogliomas: typical age
4th or 5th decade of life
89
oligodendrogliomas: pathology
cells with a "Fried egg" appearance with monotonous round nuclei, surrounded by prominent perinuclear halos
90
oligodendrogliomas: treatment
surgical resection followed by radiation and chemotherapy
91
ependyma tumors classification
based on anatomic site, histopathology, and molecular features
92
supratentorial ependymomas: location
more frequently in frontal and parietal lobes
93
supratentorial ependymomas: imaging
irregular contrast enhancement, often with cysts or calcifications
94
supratentorial ependymomas: molecular findings
fusion gene involving ZFTA or YAP1
95
supratentorial ependymomas: treatment
surgical resection followed by radiation
96
posterior fossa ependymomas: location
most frequently in the fourth ventricle, can arise in the cerebellopontine angle
97
posterior fossa ependymomas: presentation
related to mass effect/hydrocephalus from fourth ventricular obstruction
- headache, vomiting, lethargy, rapid head circumference increase in infants
98
posterior fossa ependymomas: imaging
homogenous mass within the fourth ventricle
99
spinal ependymoma: location
intradural, intramedullary lesion of the spinal cord
100
spinal ependymoma: imaging
contrast-enhancing, well-circumscribed lesion often associated with syrinx
101
myxopapillary ependymoma: location
intradural, extramedullary lesion of the spinal cord, most often in the lumbar spine
102
myxopapillary ependymoma: imaging
contrast-enhancing, well-circumscribed lesion; often described as "sausage-like" in appearance
103
MYCN-amplified ependymoma: location
intradural, extramedullary lesion of the spinal cord, most often in the cervical spine
104
MYCN-amplified ependymoma: prognosis
aggressive compared to other ependymomas
105
spinal ependymomas
spinal ependymoma
myxopapillary ependymoma
MYCN-amplified ependymoma
106
subependymoma: grade
WHO grade 1
107
subependymoma: location
most often found incidentally in the ventricles
108
subependymoma: pathology
monomorphic cells with round/oval nuclei and salt and pepper chromatin and perivascular pseudorosettes
109
choroid plexus papilloma/carcinoma: cells of origin
choroid plexus cells
110
choroid plexus papilloma/carcinoma: typical age
often presents in infants, most occurring before age 1 but can occur at any age
111
choroid plexus papilloma/carcinoma: presentation
symptoms of increased ICP due to overproduction of CSF
112
choroid plexus papilloma/carcinoma: imaging
an intraventricular highly contrast-enhancing lesion usually located in the lateral or 4th ventricle
113
choroid plexus papilloma/carcinoma: treatment
surgical resection
114
neuronal and mixed neuronal-glial tumors
ganglioglioma
desmoplastic infantile astrocytoma and ganglioma
dysembrionic neuroepithelial tumor (DNET)
central neurocytoma
115
ganglioglioma: grade
low-grade tumor, but can be more aggressive
116
ganglioglioma: imaging
cystic mass with a mural nodule
117
ganglioglioma: location
often arising in the temporal lobe
118
ganglioglioma: presentation
can often lead to refractory epilepsy
119
ganglioglioma: typical age
most common in children and young adults
120
ganglioglioma: key molecular markers
BRAF mutations, IDH negative
121
ganglioglioma: pathology
biphasic tumors with neuronal and glial elements
122
which tumors are associated with BRAF mutations?
pilocytic astrocytoma
PXA
ganglioglioma
123
desmoplastic infantile astrocytoma and ganglioglioma: grade
WHO grade 1
124
desmoplastic infantile astrocytoma and ganglioglioma: typical age
often before age 2, more often in males
125
desmoplastic infantile astrocytoma and ganglioglioma: presentation
rapid increase in head size
126
desmoplastic infantile astrocytoma and ganglioglioma: imaging
large cystic tumor with a peripheral solid component attached to the meninges of frontal or parietal lobes
127
desmoplastic infantile astrocytoma and ganglioglioma: treatment
surgical resection
128
desmoplastic infantile astrocytoma and ganglioglioma: location
meninges of frontal or parietal lobes
129
dysembrionic neuroepithelial tumor (DNET): grade
grade 1 tumor
130
dysembrionic neuroepithelial tumor (DNET): location
cortical gray matter associated with cortical dysplasia most often in temporal lobes
131
dysembrionic neuroepithelial tumor (DNET): complications
temporal lobe epilepsy
132
dysembrionic neuroepithelial tumor (DNET): pathology
myxoid clear areas with floating neurons
133
dysembrionic neuroepithelial tumor (DNET): imaging
wedge-shaped cystic cortical mass lesion with a "soap-bubble" appearance, typically non-enhancing
134
central neurocytoma: grade
grade 2
135
central neurocytoma: presentation
signs/symptoms of increased ICP
136
central neurocytoma: imaging
a cystic/bubbly lesion within the lateral ventricle near the foramen of Monro, often attached to the septum pellucidum
137
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
138
central neurocytoma: treatment
surgical resection
139
pineal region tumors
pineoblastoma
pineocytoma
140
pineoblastoma: imaging
calcified heterogenous soft tissue mass in the pineal region with enhancement
141
pineoblastoma: typical age
seen primarily in children
142
pineoblastoma: presentation
can lead to hydrocephalus secondary to mass effect
143
pineoblastoma: pathology
densely cellular primitive neuroectodermal tumors that often form Homer Wright (medulloblastoma-type) rosettes
144
pineoblastoma: treatment
gross total resection followed by radiation and chemotherapy
145
pineocytoma: imaging
contrast-enhancing midline lesion with irregular borders
146
pineocytoma: presentation
often present with symptoms of hydrocephalus or mass effect
147
pineocytoma: pathology
small mature pinealocytes with round/ovoid nuclei forming pineocytomatous rosettes
148
pineocytoma: treatment
often curative with surgical resection alone
149
embryonal tumors
medulloblastoma
150
medulloblastoma: frequency
most common malignant brain tumor in childhood (20-25% of pediatric CNS neoplasms)
151
medulloblastoma: associations
Li-Fraumeni syndrome and familial adenomatous polyposis (FAP)
152
medulloblastoma: imaging
a midline round lesion along the fourth ventricle between the brainstem and cerebellum
153
medulloblastoma: pathology
Homer-Wright rosettes with no lumen, with necrosis, and pseudopalisades
154
medulloblastoma: prognosis
can seed and develop disseminated metastatic disease all along the neuraxis
155
medulloblastoma: treatment
gross total resection followed by craniospinal irradiation and chemotherapy
156
tumors of the meninges
meningioma
157
meningioma: imaging
well-circumscribed dural-based extra-axial diffuse and homogenous enhancing lesion with a "dural tail"
158
meningioma: pathology
calcified concentric psammoma bodies with a "whorled architector"
159
meningioma: associations
NF2 patients can present with multiple meningiomas
160
meningioma: treatment
observation for asymptomatic low grade tumors
if symptomatic, resection is performed
radiotherapy is considered if the meningioma is WHO grade 3
161
Foster Kennedy Syndrome
if located in the olfactory groove tumors (especially meningiomas) can cause Foster Kennedy Syndrome: unilateral visual loss with compressive optic atrophy in one eye and contralateral papilledema in the other, also with anosmia
162
tumors of the cranial (and spinal) nerves
schwannoma
neurofibroma
optic nerve glioma
carcinomatosis meningitis
lymphomatous meningitis
163
schwannoma: location
most commonly arise on CN VII/VIII complex but can arise on any cranial nerve except I and II, which do not have SChwann cells
164
schwannoma: imaging
contrast enhancing mass usually within the internal auditory canal or cerebellar pontine angle
165
schwannoma: pathology
areas of compact elongated cells with nuclear palisades called Verocay bodies
166
schwannoma: association
bilateral acoustic schwannomas are pathognomonic for patients with NF2
167
neurofibroma: grade and location
benign tumors, typically on peripheral nerves
168
neurofigroma: associations
associated with neurofibromatosis type 1 (NF1)
169
optic nerve glioma: location
typically occurs in CN II and along the visual pathway
170
optic nerve glioma: types
astrocytomas, either fibrillary (60%) or pilocytic (40%)
171
carcinomatosis meningitis: presentation
multiple cranial neuropathies
172
lymphomatous meningitis: presentation
multiple cranial neuropathies
173
lymphomas and hematopoietic tumors
hemangioblastoma
CNS lymphoma
intravascular lymphoma
hemangioma
multiple myeloma
langerhans cell histiocytosis
174
hemangioblastoma: imaging
contrast-enhancing nodule surrounding a non-enhancing cyst in the posterior fossa with little vasogenic edema
175
hemangioblastoma: pathology
large vacuolated stromal cells and variably sized small vascular structures
176
hemangioblastoma: associations
commonly seen in patients with Von-Hippel Lindau (VHL) syndrome
177
CNS lymphoma: imaging
can have a highly variable appearance ranging from diffusely infiltrative, to a solid margin, to lobulated margins
lesions can have variable enhancement and possible diffusion restriction
178
CNS lymphoma: location
tend to be located within the basal ganglia or periventricular white matter and can involve the corpus callosum
179
CNS lymphoma: immunocompetent patients
lesions more likely unifocal and are uniformly contrast enhancing
180
CNS lymphoma: immunocompromised patients
lesions may be multifocal and are ring enhancing
181
CNS lymphoma: pathology
positive staining for B cell marker, CD20
182
CNS lymphoma: associations
the elderly and immunocompromised patients are at risk of CNS lymphoma, especially if EBV positive
183
CNS lymphoma: 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
184
intravascular lymphoma: presentation
presents as a B-cell driven disease that has multi-organ involvement that may involve the central nervous system
if CNS involvement, patients present with multiple small brain infarcts
185
intravascular lymphoma: pathology
lymphoma cells within the blood vessels
186
hemangiomas: imaging
lesion with a "popcorn" appearance with a perimeter of increased signal due to hemosiderin
187
hemangiomas: complications
lesions at an increased risk of bleeding
188
multiple myeloma: associations
will involve the bony structures and can lead to compression fractures
189
multiple myeloma: imaging
salt and pepper pattern with diffuse heterogeneous lesions of vertebrae
190
langerhans cell histiocytosis: cells of origin
due to uncontrolled monoclonal proliferation of Langerhans cells
191
langerhans cell histiocytosis: pathology
Langerhans cells have large, convoluted, and folded nuclei and are CD1a positive
192
langerhans cell histiocytosis: typical age
most common in children and female predominant
193
langerhans cell histiocytosis: imaging
lytic lesions in the skull and severe vertebral compression fractures with vertebra plana configuration
194
germ cell tumors
germinoma
195
germinoma: epidemiology
most common pineal region neoplastic lesion
196
germinoma: imaging
solid, contrast-enhancing midline pineal mass near the 3rd ventricle
197
germinoma: pathology
small reactive lymphocytes and large neoplastic germ cells with clear cytoplasm
histologically similar to cells in the ovaries and testes
198
germinoma: male/female
males much higher risk than females
199
germinoma: associations
should be considered in patients who are young and develop diabetes insipidus
200
sella region tumors
craniopharyngioma
pituitary macroadenoma
pituitary microadenoma
hypothalamic hamartoma
201
craniopharyngioma: imaging
partially calcified cystic/solid multi-compartmental suprasellar mass
202
craniopharyngioma: cells of origin
derived from Rathke pouch epithelium
203
craniopharyngioma: differential diagnosis
Rathke cleft cyst (RCC)
suprasellar arachnoid cyst
hypothalamic/chiasmatic astrocytoma
pituitary adenoma
(epi-)dermoid tumors
thrombosed aneurysm
germinoma or mixed germ cell tumor with cystic compionent(s)
204
Rathke cleft cyst (RCC) compared to craniopharyngioma
noncalcified, less heterogeneous, look for intracystic nodule, does not enhance, "claw" sign (enhancing pituitary draped around cyst)
205
suprasellar arachnoid cyst compared to craniopharyngioma
noncalcified, no enhancement
206
hypothalamic/chiasmatic astrocytoma compared to craniopharyngioma
solid or with small cystic/necrotic components, calcification is rare; robust enhancement is common
207
pituitary adenoma compared to craniopharyngioma
rare in prepubescent children, isointense with the brain, enhances strongly, can mimic CP when cystic and hemorrhagic
208
(epi-)dermoid tumors compared to craniopharyngioma
minimal or no enhancement
209
thrombosed aneurysm compared to craniopharyngioma
contains blood products, look for residual patent lumen, phase artifact
210
germinoma or mixed germ cell tumor with cystic component(s) compared to craniopharyngioma
CSF spread common, calcification rare
211
pituitary macroadenoma: epidemiology
most common suprasellar mass in adults
212
pituitary macroadenoma: presentation
can lead to compression of the optic chiasm
213
pituitary macroadenoma: imaging
a large, enhancing sellar/suprasellar mass
214
pituitary microadenoma: imaging
small focal hypointense sellar mass
215
pituitary microadenoma: secretory
prolactinoma is most common secretory pituitary adenoma
bromocriptine and cabergoline can be used to suppress prolactin secretion
216
hypothalamic hamartoma: imaging
a round, non-enhancing, iso-intense mass in the hypothalamus, superior to the infundibulum
217
hypothalamic hamartoma: presentation
can present with precocious puberty and/or gelastic seizures
218
cysts and other lesions
colloid cyst
epidermoid cyst
synovial cyst
rathke cleft cyst
arachnoid cyst
mucocele
lipoma
219
colloid cyst: imaging
hyperdense non-enhancing epithelial-lined cyst of the foramen of Monro
220
colloid cyst: presentation
at risk of developing obstructive hydrocephalus
- presents with intermittent or persistent headaches due to the increased intracranial pressure from obstruction of CSF outflow
221
colloid cyst: typical age
peak age of onset is 3rd or 4th decade of life
222
colloid cyst: treatment
microsurgically, endoscopically, or with biventricular shunts in nonsurgical candidates
223
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
- on MRI, both arachnoid and epidermoid cysts are hyperintense on T2, but with FLAIR arachnoid cysts become hypointense (like CSF) while epidermoid cysts usually stay hyperintense
- epidermoid cysts also have hyperintensity on DWI which helps to distinguish from an arachnoid cyst as well
224
epidermoid cyst: compared to arachnoid cyst
- on MRI, both arachnoid and epidermoid cysts are hyperintense on T2, but with FLAIR arachnoid cysts become hypointense (like CSF) while epidermoid cysts usually stay hyperintense
- epidermoid cysts also have hyperintensity on DWI which helps to distinguish from an arachnoid cyst as well
225
synovial cyst: location
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
226
synovial cyst: imaging
well-circumscribed, smooth, extra-dural lesion adjacent to facet joints
calcification within the cyst can also occur
227
rathke cleft cyst: imaging
cystic lesion of the pituitary stalk
228
synovial cyst: presentation
radicular pain and symptoms related to compression of the adjacent root
229
rathke cleft cyst: presentation
commonly present with pituitary dysfunction
230
arachnoid cyst: location
extra-axial, congenital, space-occupying lesions that displace parenchymal brain tissue and are often asymptomatic
231
arachnoid cyst: imaging
fluid collection that is isodense/isointense to CSF on all sequences (CT, MRI, FLAIR, DWI)
232
mucocele: imaging
opacification of the sinus
233
mucocele: at risk
at risk of abscess formation
234
lipoma: imaging
an intradural extramedullary sharply circumscribed homogenous mass that suppresses on STIR fat-suppressed sequences
235
lipoma: location
if found intracranially, they may be near the corpus callosum
236
milial tumor syndromes of the CNS
neurofibromatosis type 1
neurofibromatosis type 2
tuberous sclerosis
sturge-weber syndomre
von-hippel lindau
li-fraumeni
cowden syndrome
turcot syndrome
237
NF1: aka
von Recklinghausen disease
238
NF1: genetics
autosomal dominant disease related to the NF1 gene, which codes for neurofibromin
239
NF1: non-neurologic findings
cafe-au-lai spots, Lisch nodules, skeletal abnormalities, and axillary freckling
240
NF1: neurologic lesions
optic nerve gliomas
neurofibromas
241
NF1: 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
242
NF1: neurofibromas
can 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
243
plexiform neurofibromas
seen in NF1 but not seen in NF2
244
NF2: aka
central neurofibromatosis
245
NF2: genetics
autosomal dominant disorder related to the NF2 gene, which encodes for merlin on chromosome 22
246
NF2: presentation
vestibular schwannomas and multiple meningiomas
247
NF2: presentation
can have bilateral acoustic neuromas, patients usually present in their 20s with tinnitus
248
NF2: of note
these patients do not form neurofibromas
249
NF2: mnemonic
NF2 is a story of 2s: 2 nerves affected (typically CN VII or CN VIII), often on 2 sides (bilateral), 2 tumors (schwannomas, meningiomas), chromosome 22
250
tuberous sclerosis: genetics
autosomal dominant neurocutaneous disorder related to two tumor-suppressor genes: TSC1 (9q34) which encodes hamartin and TSC2 (16q13) which encodes tuberin
251
TSC1 genetics
9q36 which encodes hamartin
252
TSC2 genetics
16q13 which encodes tuberin
253
TS: imaging
cortical tubers which can be foci for seizures, which can be foci for seizures
254
TS: non-neurologic
ash-leaf spots, facial angiofibromas, angiomyolipomas, and retinal hamartomas
255
TS: association
intellectual disability occurs in several cases
256
TS: subependymal giant cell astrocytomas
5-10% of patients develop SEGAs
257
TS: mnemonic
TUBERRRS: Tsc2, U(ventricular), Bulk removal, Eosinophilic Rhabdomyosarcoma/Renal angiomyolipoma/Retinal hamartomas, Seizures
258
sturge weber syndrome: aka
encephalotrigeminal angiomatosis
259
sturge weber syndrome: gene
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
260
sturge weber syndrome: presentation
classic "port-wine stain" (cutaneous angioma) on the face with ipsilateral angiomatosis
261
sturge weber syndrome: 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)
262
sturge weber syndrome: presentation
variable presentation from asymptomatic to seizures, weakness, etc
263
Cobb's syndrome
sturge weber syndrome with spinal dural angioma in the spinal cord with a port-wine stain in the corresponding dermotome
264
Von Hippel Lindau (VHL): genetics
autosomal dominant disorder that leads to the upregulation of vascular endothelial growth factor (VEGF)
265
Von Hippel Lindau (VHL): presentation
infratentorial hemangioblastomas and retinal angiomas
266
Von Hippel Lindau (VHL): non-CNS manifestations
renal cell carcinoma, pheochromocytomas, and pancreatic and renal cysts
267
Von Hippel Lindau (VHL): mnenoic
VHL: Visceral cysts (kidney, pancreas, genitals), Hemangioblastomas, Light-sensitive (i.e. retinal involvement)
268
Li-Fraumeni: genetics
autosomal dominant disorder due to mutations of the p53 gene
269
Li-Fraumeni: presentation
tumors at various sites including breast, bone, blood, and adrenal glands
270
Li-Fraumeni: CNS
astrocytomas, medulloblastomas, and less commonly primitive neuroextodermal tumors (PNETs)
271
Cowden syndrome: genetics
autosomal dominant disease secondary to the PTEN tumor suppressor gene
272
Cowden syndrome: presentation
multiple hamartomas in various tissues, especially the skin and colon
young adults with cerebellar dysfunction or obstructive hydrocephalus
273
Cowden syndrome: association
associated with Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma)
274
Cowden syndrome: pathology
abnormal ganglion cells
275
Turcot syndrome: aka
mismatch repair cancer syndrome
276
Turcot syndrome: presentation
multiple colon polyps and an increased risk of colorectal and brain cancers (glioblastoma, medulloblastoma, SGCA)
277
metastatic cancer
intraparenchymal metastasis
leptomaningeal carcinomatosis
278
intraparenchymal metastasis: imaging
lesions of intense contrast enhancement surrounded by mild to moderate edema usually at the grey-white junction
279
intraparenchymal metastasis: common sources
lung (~40-50%) >> breast (~15-20%) > melanoma and GI (~10-% each)
280
intraparenchymal metastasis: causing hemorrhage
melanoma and renal cell carcinoma most likely to cause hemorrhage
281
intraparenchymal metastasis: meningeal infiltration
breast cancer
282
tip for which organs metastasize to the brain
when in doubt, paired organs (lungs, breast, and kidneys) and surface organs (skin, GI tract) typically metastasize to the brain
283
leptomeningeal carcinomatosis: imaging
contrast enhancement along the leptomeninges
284
leptomeningeal carcinomatosis: work up
when on differential, patients should have the whole neuraxis imaged to look for additional lesions as well as CSF analysis
285
leptomeningeal carcinomatosis: presentation
obstruction of CSF re-absorption from the malignancy can lead to communicating hydrocephalus
severe headaches, nausea, and vomiting
can improve with large volume lumbar puncture or EVD placement
286
paraneoplastic disorders: presentation
symptoms often precede cancer diagnosis and thus patients require cancer surveillance for a minimum of 2 years after symptom onset
287
paraneoplastic disorders
limbic encephalitis
paraneoplastic cerebellar degeneration
lambert-eaton myasthenic syndrome (LEMS)
others (myasthenia gravis, subacute sensory neuronopathy, opsoclonus-myoclonus syndrome, stiff-person syndrome, neuro-myotonia, dysautonomia, myelopathy)
288
limbic encephalitis: associated
most associated with SCLC, testicular germ cell tumors, or ovarian teratomas
289
limbic encephalitis: antibodies
several are related including anti-Hu, voltage-gated potassium channels, NMDA receptors, etc
290
limbic encephalitis: CSF
slightly more than half of patients with autoimmune limbic encephalitis have detectable CNS antibodies
291
limbic encephalitis: presentation
psychiatric/cognitive abnormalities, seizures, facial and limb dyskinesias, and autonomic instability
292
limbic encephalitis: imaging
abnormalities in cortical and subcortical regions
293
limbic encephalitis: EEG
NMDA-related encephalitis can have delta brush pattern
294
limbic encephalitis: young women
should be evaluated for ovarian teratoma
295
paraneoplastic cerebellar degeneration: presentation
subacute progression of ataxia, nystagmus, and dysarthria
296
paraneoplastic cerebellar degeneration: common causes
gynecological (ovarian, uterine, breast) and small cell lung cancers
297
paraneoplastic cerebellar degeneration: pathology
profound loss of Purkinje cells
298
paraneoplastic cerebellar degeneration: antibody
anti-Yo is the anti-Purkinje cell antibody
299
paraneoplastic cerebellar degeneration: MRI
often normal, may have some enhancement near the cerebellum, and may have cerebellar atrophy
300
paraneoplastic cerebellar degeneration: recovery
slow or partial (postmortem studies show permanent loss of Purkinje cells)
301
LEMS: presentation
proximal weakness and fatigability, impotence, and ptosis
302
LEMS: association
paraneoplastic encephalomyelitis and cerebellar degeneration
303
LEMS: cancer
most often SCLC, 70% have cancer
304
myasthenia gravis
thymoma
305
opsoclonus-myoclonus syndrome: presentation
rapid, high-amplitude conjugate eye movements (opsoclonus), myoclonus, ataxia
306
opsoclonus-myoclonus syndrome: related to
neuroblastoma in children and breast, ovarian, or small cell lung cancer in adults
307
opsoclonus-myoclonus syndrome: antibody
anti-Ri/ANNA-2 or anti-Hu
308
stiff person syndrome: antibody
anti-amphiphysin (paraneoplastic) or anti-GAD (more often autoimmune than paraneoplastic)
309
acetylcholine receptor, MUSK: tumor
thymoma
310
acetylcholine receptor, MUSK: neurologic symptoms
myasthenia gravis
311
voltage-gated calcium channel (VGCC) antibody: tumor
small cell lung cancer
312
voltage-gated calcium channel (VGCC) antibody: neurologic symptoms
LEMS
313
neuronal ganglionic acetylcholine receptor antibody: tumor
adenocarcinoma
thymoma
314
neuronal ganglionic acetylcholine receptor antibody: neurologic symptoms
autonomic neuropathy
315
voltage-gated potassium channel (VGKC) complex (LGI1 and CASPR2): tumor
variable
316
voltage-gated potassium channel (VGKC) complex (LGI1 and CASPR2): neurologic symptoms
limbic encephalitis
faciobrachial dystonic seizures (LGI1)
317
LGI1
faciobrachial dystonic seizures
318
NMDA receptor antibody: tumor
ovarian teratoma
319
NMDA receptor antibody: neurologic symptoims
limbic encephalitis
320
ANNA-1 (anti-Hu): tumor
small cell lung cancer
321
ANNA-1 (anti-Hu): neurologic symptoms
limbic encephalitis, opsoclonus-myoclonus
322
ANNA-2 (anti-Ri): tumor
small cell lung cancer, breast cancer
323
ANNA-2 (anti-Ri): neurologic symptoms
opsoclonus-myoclonus, encephlomyelitis, limbic encephalitis
324
ANNA-3 antibody: tumor
small cell lung cancer
325
ANNA-3 antibody: neurologic symptoms
limbic encephalitis, myelopathy, peripheral neuropathy
326
PNMA-1 (anti-Ma1): tumor
testicular cancer, breast cancer, colon cancer
327
PNMA-1 (anti-Ma1): neurologic symptoms
limbic encephalitis, brainstem encephalitis
328
PNMA-2 (anti-Ma2): tumors
testicular
329
PNMA-2 (anti-Ma2): neurologic symptoms
limbic encephalitis, brainstem encephalitis
330
PCA-1 (anti-Yo): tumor
gynecologic cancers, breast cancer
331
PCA-1 (anti-Yo): neurologic symptoms
cerebellar degeneration
332
CRMP-5 (anti CV2): tumor
small cell lung cancer, thymoma
333
CRMP-5 (anti CV2): neurologic symptoms
chorea, myelopathy, peripheral neuropathy
334
anti-GAD: tumor
small cell lung cancer, thymoma
335
anti-GAD: neurologic symptoms
Stiff-person syndrome, cerebellar ataxia, limbic encephalitis
336
anti-amphiphysin: tumor
breast cancer
337
anti-amphiphysin: neurologic symptoms
stiff-person syndrome
338
intraventricular tumors: lateral ventricle
subependymoma, choroid plexus tumors
339
intraventricular tumors: third ventricle
colloid cyst, SGCA/SEGA, central neurocytoma
340
intraventricular tumors: fourth ventricle
ependymoma, medulloblastoma
341
dural based tumors
meningioma, metastases
342
sellar tumors
pituitary adenoma, craniopharyngioma, rathke cleft cyst
343
pineal tumors
germinoma, pineal tumors
344
intramedullary/intraparenchymal tumors
astrocytoma, ependymoma
345
intradural extramedullary/extraparenchymal tumors
meningioma, neurofibroma, lipoma
346
extradural extramedullary/extraparenchymal tumors
metastasis, bone-related tumors (lagnerhans cell histiocytosis, multiple myeloma, chordoma)
347
chordoma
notochord-derived tumor
imaging: a heterogeneous enhancing lesion usually located with the clivus or sacrum
348
cyst and mural nodule
hemangioblastoma, pilocytic astrocytoma
349
calcified
meningioma, oligodendroglioma, low-grade astrocytoma, ependymoma, craniopharyngioma
350
contrast
metastasis, meningioma, astrocytoma, schwannoma
351
hemorrhagic
metastasis, high-grade astrocytoma, lymphoma, hemangioblastoma
352
transthyretin
choroid plexus papilloma
353
TSC1
hamartoma
354
TSC2
tuber
355
p53
astrocytoma
356
CDKN2A
astrocytoma
357
PTEN
astrocytoma
358
gain ch7, loss of 9p
astrocytoma
359
glial fibrillary acidic protein (GFAP) which is expressed in astrocytes and ependymal cells
astrocytoma, oligodendroglioma, ependymoma, gangliocytoma, hemangioblastoma
