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Intractable Rare Dis Res. 2019 Nov;8(4):279-282. doi: 10.5582/irdr.2019.01118.

Anaplastic glioneuronal tumor with KIAA1549/BRAF fusion.

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Department of Medical Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, USA.
Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, USA.
Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, USA.
University of California, Berkeley, Berkeley, USA.


Glioneuronal tumors are usually low-grade and have favorable prognosis. The anaplastic glioneuronal tumor with KIAA1549/BRAF fusion has not yet been documented. This article reports a case of glioneuronal tumor with anaplasia and KIAA1549/BRAF fusion to illuminate the importance of KIAA1549/BRAF fusion in high-grade glioneuronal tumors. A ten-year-old boy presented with one year of headache and three months of blurry vision and proptosis. Ophthalmologic evaluation revealed bilateral papilledema. Magnetic resonance imaging showed a large mixed cystic and solid mass in the left frontal lobe of cerebrum. Histologic analysis demonstrated a neoplasm with pseudopapillary growth pattern, focal necrosis, microcalcification, and brisk mitotic activity with a high Ki67 labeling index of focally up to 20%. Immunohistochemical assessment identified a mixed glial and neuronal neoplastic cell population. Molecular studies revealed a KIAA1549/BRAF fusion. The histological and molecular changes are consistent with an anaplastic glioneuronal tumor with KIAA1549/BRAF fusion. In view of the fact that the effective, targeted therapies for the tumors with KIAA1549/BRAF fusion are available, detection of KIAA1549/BRAF fusion for high-grade glioneuronal tumors is clinically helpful.


Glioneuronal tumor; KIAA1549/BRAF fusion; anaplasia; central nervous system

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