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Transcript unc-neurorad-neuropath

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
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
• 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
INI1, a member of the SWI/SNF chromatin remodeling complex, is
important in maintenance of the mitotic spindle and cell-cycle
• 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 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,
Cystic mass with enhancing mural nodule
Associated flow voids
Thoracic > Cervical > Lumbar
Evaluate posterior fossa for additional lesions
Differential diagnosis: Astrocytoma, Ependymoma,
Case 4- 58 y/o F
Presented to outside institution with altered mental status
Possible complaint of blurry vision
Diabetes, Hypertension
Thank you