1. Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas.
- Author
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Dandapath I, Das S, Charan BD, Garg A, Suri A, Kedia S, Sharma MC, Sarkar C, Khonglah Y, Ahmed S, and Suri V
- Subjects
- Humans, Female, Male, Child, Child, Preschool, Adolescent, Infant, Immunohistochemistry methods, In Situ Hybridization, Fluorescence methods, Young Adult, Astrocytoma genetics, Astrocytoma pathology, Oncogene Proteins, Fusion genetics, Proto-Oncogene Proteins B-raf genetics, Brain Neoplasms genetics, Brain Neoplasms pathology, Biomarkers, Tumor genetics, Biomarkers, Tumor metabolism
- Abstract
Background: Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549::BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549::BRAF fusions and explore their associations with tumor characteristics, radiological findings, and patient outcomes in PAs., Methods: Histologically confirmed cases of PAs from a 5-year period were included in the study. Demographic, histopathological, and radiological data were collected, and immunohistochemistry was performed to characterize tumor markers. FISH and qRT-PCR assays were employed to detect KIAA1549::BRAF fusions. Statistical analyses were conducted to examine associations between fusion status and various other parameters., Results: Histological analysis revealed no significant differences in tumor features based on fusion status. However, younger age groups showed higher fusion prevalence. Radiologically, fusion-positive cases were distributed across different tumor subtypes SE, CWE and NCWE. Survival analysis did not demonstrate a significant impact of fusion status on overall survival, however most cases with recurrence and death harboured KIAA1549::BRAF fusion. Of 200 PAs, KIAA1549::BRAF fusions were detected in 64 % and 74 % of cases via qRT-PCR and FISH, respectively. Concordance between the two platforms was substantial (86 %)., Conclusion: KIAA1549::BRAF fusions are prevalent in PAs and can be reliably detected using both FISH and qRT-PCR assays. Cost considerations suggest qRT-PCR as a more economical option for fusion detection in routine clinical practice., Competing Interests: Declaration of competing interest No conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)
- Published
- 2024
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