Transcript Case Study 31

Case Study 31
Julia Kofler, M.D.
Question 1
A 6-year-old boy was followed for several years for a
slowly growing brain lesion. Describe the findings in his
MRI scan.
T1
T2
flair
T1 postcontrast
Answer
 Homogeneously contrast-enhancing mass in the
frontal horn of the left lateral ventricle
 Minimal mass effect with slight shift of the
septum pellucidum
 A smaller contrast-enhancing mass is also seen
in the frontal horn of the right lateral ventricle
(best seen on the axial image)
 No evidence of surrounding brain edema
 No evidence of hydrocephalus
Question 2
What is your differential diagnosis based on the imaging
findings?
Answer
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Ependymoma
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Subependymal giant cell astrocytoma
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Choroid plexus tumors
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Pilocytic astrocytoma
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Central neurocytoma
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Meningioma
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Subependymoma is usually non-enhancing
Question 3
A resection of the mass was performed. Describe the
findings in the following representative permanent H&E
slide.
Click here to view slide.
Answer
 Clusters of polygonal cells with abundant glassy cytoplasm
and eccentric nuclei with prominent nucleoli
 Tumor cells vary in size; giant cells and multinucleated cells
are present
 Tumor cells are embedded in fibrillary background
 Focal perivascular pseudopalisading
 Rare mitotic figures are present
 Scattered infiltrating mast cells are noted
 No necrosis or vascular endothelial proliferation is present
Question 4
Representative images of immunohistochemical stains
can be seen in the following figure. The Ki-67 proliferation
index was 1-3%. What is your diagnosis?
GFAP
S100
NeuN
Answer
Subependymal giant cell astrocytoma
Question 5
Throughout the tumor, there are scattered cells with a
different morphology and pale blue cytoplasm as
highlighted in the following figure.
1.What are these cells?
2.Which stain was used to highlight them?
3.Which immunohistochemical stains could be used to
highlight these cells
Answer
1. Mast cells
2. Giemsa stain
3. Tryptase or CD117 (c-kit)
Question 6
Further review of the patient’s MRI scan reveals additional
findings. The patient also has a history of seizures.
Describe the radiologic findings and give the most likely
diagnosis.
T2
flair
T2
flair
T2
flair
Answer

Multifocal subcortical T2/flair hyperintensities and
minimal thickening of the overlying cortex

Cortical tubers
Question 7
Other clinical features in this patient include an
asymptomatic cardiac tumor, mild learning disability and
multiple white patches on his skin.
1.Based on the clinical, radiological and pathological
findings, what is your diagnosis?
2.What is the most likely diagnosis for the patient’s
cardiac tumor?
Answer
1. Tuberous sclerosis
2. Cardiac rhabdomyoma
Question 8
Which genetic test would you order to confirm you
diagnosis?
Answer
Mutational analysis of TSC1 and TSC2 genes, encoding
for hamartin and tuberin.
Question 9
Name the major clinical features of tuberous sclerosis.
Answer
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







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Facial angiofibromas
Nontraumatic ungual or periungual fibroma
Hypomelanotic macules (>3)
Shagreen patch
Retinal nodular hamartomas
Cortical tubers
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Lymphangiomatosis
Renal angiomyolipoma
Question 10
What are the histopathologic findings in a cortical tuber?
Answer
 Giant cells (similar to subependymal giant cell
astrocytoma)
 Dysmorphic neurons
 Dysmorphic neurons and giant cells may be seen in all
cortical layers and underlying white matter
 Disrupted cortical lamination
 Gliosis
 Calcification of blood vessel walls and/or parenchyma
 Myelin loss