unc-neurorad-neuropath

Report
UNC NeuroradiologyNeuropathology Conference
November 2012
Stephen Bagg, MD
Fellow in Neuroradiology
Case 1- 57 y/o female with no sig PMHx
1 month hx of progressive
Dizziness
Diplopia
Falls
Physical Exam
CN 6 palsy
R facial droop and R tongue deviation
L facial numbness
R sided dysmetria
Neurology localized abnormality to
Medulla, pons, cerebellum
Brainstem Gliomas in Adults
In a series of 48 adults with a brainstem glioma by clinical and radiologic
findings, most of the tumors fit into one of three categories:
• 50% of patients had diffuse intrinsic low-grade gliomas (WHO I or II).
Ppatients were typically young adults with a long clinical history and no
tumor enhancement. Patients treated by radiotherapy and had a 7.3 year
median survival. Anaplastic change (as determined by MRI) developed in 50%
of and was the most common cause of death.
• 33% patients had malignant gliomas (WHO grade III or IV). Patients were
typically older adults, presented with a short clinical history, and had
enhancement and signs of necrosis. Patients were refractory to therapy and
had a 11.2 month median survival.
• 10% of patients had focal tectal gliomas. These were young and often
presented with hydrocephalus. These tumors had an indolent course.
Guillamo J-S, et al. Brain 124:2528-2539, 2001.
Case 2- 21 month old male
Previously healthy
Recently noted by PCP to have macrocephaly
Developed Ataxia and N/V
Atypical teratoid rhabdoid tumor
(ATRT)
• ATRTs are rare tumors that comprise approximately 1-2% of all
pediatric brain tumors; however, in patients less than 3 years of age
this tumor accounts for up to 20% of cases.
• ATRT usually occurs in posterior fossa or supratentorial location
and are only rarely in spinal region
•
ATRT is characterized by loss of the long arm of chromosome 22,
which results in loss of the hSNF5/INI-1 gene and loss of INI-1
expression.
•
INI1, a member of the SWI/SNF chromatin remodeling complex, is
important in maintenance of the mitotic spindle and cell-cycle
control.
• WHO grade IV. Overall survival in ATRT is poor with median
survival of around 17 months.
Ginn KF, Gajjar A. Front Oncol. 2012;2:114. Epub 2012 Sep 12.
Imaging Features, ATRT
Heterogeneous mass/enhancement
Commonly contains cysts & hemorrhage
Leptomeningeal enhancement is common
Restricted Diffusion is common
Imaging Diff Dx = medulloblastoma
ATRT are generally more heterogeneous than medulloblastoma
Medulloblastoma is more commmon
Common neoplasms associated with intracranial
tumoral hemorrhage
Yuguang L, et al. Journal of Clinical Neuroscience(2002); 9(6),637639.
Case 3- 36 y/o male
1 year history of R hand and foot numbness
Otherwise healthyNo significant past medial history
Inhibin IHC
Hemangioblastoma
• Hemangioblastoma is a benign CNS neoplasm (WHO grade I),
representing 1.5%–2.5% of all intracranial tumors and 7%–12% of
posterior fossa tumors. It most commonly arises in the cerebellum but
may also arise in the cerebral hemispheres, medulla, and spinal cord. Peak
incidence is 3rd to 6th decades.
• 75% of hemangioblastomas are associated with sporadic mutations
involving the Von Hippel-Lindau (vHL) gene located at the short arm of
chromosome 3, whereas the remaining 25% occur in the setting of the
Von Hippel-Lindau syndrome. This is an autosomal dominant syndrome
caused by a germline mutation in the vHL tumor suppressor gene.
• Individuals with the VHL syndrome are at risk of developing renal cell
carcinoma and hemangioblastoma in addition to pancreatic and renal
cysts, cystadenomas of the epididymis, and endolymphatic sac tumors.
• The stromal cells stain for Inhibin A, which is a glycoprotein normally
secreted by ovarian granulosa cells and testicular Sertoli and Leydig cells
to inhibit pituitary follicle-stimulating hormone.
Carney EM, et al. Am J Surg Pathol 2011;35:262–267.
Imaging Features,
Hemangioblastoma
Cystic mass with enhancing mural nodule
Associated flow voids
Thoracic > Cervical > Lumbar
Evaluate posterior fossa for additional lesions
Differential diagnosis: Astrocytoma, Ependymoma,
AVF/AVM
Case 4- 58 y/o F
Presented to outside institution with altered mental status
Possible complaint of blurry vision
PMHx
Diabetes, Hypertension
ASL CBF map
Meningioma
Thank you

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