Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas.
Ann Diagn Pathol
; 72: 152318, 2024 Oct.
Article
em En
| MEDLINE
| ID: mdl-38733671
ABSTRACT
BACKGROUND:
Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549BRAF 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 KIAA1549BRAF 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 KIAA1549BRAF fusion. Of 200 PAs, KIAA1549BRAF fusions were detected in 64 % and 74 % of cases via qRT-PCR and FISH, respectively. Concordance between the two platforms was substantial (86 %).CONCLUSION:
KIAA1549BRAF 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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Astrocitoma
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Neoplasias Encefálicas
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Biomarcadores Tumorais
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Proteínas de Fusão Oncogênica
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Proteínas Proto-Oncogênicas B-raf
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article