alexa Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF V600E mutation and p16 loss.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Molecular Biomarkers & Diagnosis

Author(s): Yeo YH, Byrne NP, Counelis GJ, Perry A

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Abstract Pilocytic astrocytoma (PA) is the most common pediatric tumor, with the vast majority being benign (WHO Grade I). Herein, we present a rare sporadic (not radiation- or NF1-associated) anaplastic PA arising from the cerebellum of an adult patient. The diagnosis was based on the coexistence of classic PA and more cellular foci, associated with both tumor necrosis and up to 27 mitoses per 10 high power fields. Based on these features, the tumor was felt to be equivalent in biological behavior to that of a WHO Grade III astrocytoma. Additional genetic studies revealed the presence of a BRAF V600E mutation. In comparison to the foci of classic PA, the malignant component showed increased p53 protein expression, decreased p16 protein expression, and hemizygous p16 gene deletion by FISH analysis. This case provides additional support for the concept of anaplastic transformation in PA and further elucidates the possible molecular pathways associated with malignant progression. This article was published in Clin Neuropathol and referenced in Journal of Molecular Biomarkers & Diagnosis

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