Anaplastic glioneuronal tumor with KIAA1549/BRAF fusion
| Autor: | Zhenggang Xiong, Prithvi Narayan, Jay Xiong, Liqiong Liu |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty education.field_of_study medicine.diagnostic_test business.industry Population Magnetic resonance imaging General Medicine medicine.disease digestive system diseases Glioneuronal tumor medicine Immunohistochemistry Neoplasm Neoplastic cell medicine.symptom Bilateral papilledema business education neoplasms Anaplasia |
| Zdroj: | Intractable & Rare Diseases Research. 8:279-282 |
| ISSN: | 2186-361X 2186-3644 |
| DOI: | 10.5582/irdr.2019.01118 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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