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Case 19 History: An 8 year-old girl with a solid, midline cerebellar mass.

Diagnostic Challenge Pathology for Neurosurgery & Neurology Residents Department of Pathology University of Oklahoma Health Sciences Center, Oklahoma City, OK, U.S.A. Case 19 History: An 8 year-old girl with a solid, midline cerebellar mass.

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Case 19 History: An 8 year-old girl with a solid, midline cerebellar mass.

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  1. Diagnostic ChallengePathology for Neurosurgery & Neurology ResidentsDepartment of PathologyUniversity of Oklahoma Health Sciences Center,Oklahoma City, OK, U.S.A. Case 19 History: An 8 year-old girl with a solid, midline cerebellar mass. Contributor: Kar-Ming Fung, M.D., Ph.D., karming-fung@ouhsc.edu Last updated: 5/5/2008

  2. Cytologic Preparation Cytologic Preparation A B

  3. Frozen Section Frozen Section C D

  4. Immunohistochemistry: Synaptophysin: +, Neurofilament: + in a some tumor cells, Glial Fibrillary Acidic Protein (GFAP): - in tumor cells, Ki67: 50% + Paraffin Section Paraffin Section E F

  5. What is your diagnosis?

  6. Diagnosis: Medulloblastoma, WHO grade IV. • Discussion: • In reality, the diagnosis of this tumor is quite straight forward. It is essentially a small blue cell tumor in the cerebellar fossa with neuronal features (positive for synaptophysin and neurofilament). Taking the patient’s age into account, the best diagnosis is medulloblastoma (WHO grade IV). • There are no rhabdoid cells to suggest atypical rhabdoid teratoid tumor (ATRT). It should be note that many ATRT has medulloblastoma-like components. In addition, the number of rhabdoid cells can vary from abundant to scant. When there is a doubt, immunohistochemistry, particularly BAF47 can help. Also note that the Purkinje cells (arrow) in the cytologic preparation can be mistaken as rhabdoid cells.

  7. Although the variation in cell size is minimal in formalin fixed, paraffin embedded sections, the variation of nuclear size can be well appreciated in the cytologic preparation as illustrated below. There is a far more variation in nuclear size in the cytologic preparation (left) between large and small tumor cells (black arrows) than formalin fixed, paraffin embedded sections. Note that internal granular cells are present. They are much smaller and monotonous (white arrows). They should not be mistaken as tumor cells.

  8. Medulloblastomas have a tendency to invade the leptomeninges and this feature is well illustrated in this case. The tumor cells will be admixed with collagenous fibers (arrow) and often histologically suggest sarcoma when these areas are interpreted in isolation without the privilege of clinical information. This could be rather problematic during frozen section. • These areas are medulloblastoma with desmoplastic changes and is not the same as desmoplastic medulloblastom which is a variant of medulloblastoma with nodular histology, reticulin formation, pale islands, and tendency to occur in older children or young adults.

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