背景:毛细胞星形细胞瘤(PAs)是儿童原发性脑肿瘤的重要组成部分,具有明显的组织学和放射学特征。PAs中KIAA1549::BRAF融合的患病率已经得到了很好的证实,这项研究旨在评估KIAA1549::BRAF融合的患病率,并探讨其与肿瘤特征的关系,放射学发现,和患者在PA中的结果。
方法:本研究包括5年的组织学确诊病例。人口统计,组织病理学,收集了放射学数据,并进行免疫组织化学来表征肿瘤标志物。采用FISH和qRT-PCR测定来检测KIAA1549::BRAF融合。进行统计分析以检查融合状态和各种其他参数之间的关联。
结果:组织学分析显示基于融合状态的肿瘤特征没有显著差异。然而,较年轻年龄组的融合患病率较高.放射学上,融合阳性病例分布在不同的肿瘤亚型SE,CWE和NCWE。生存分析未显示融合状态对总生存有显著影响,然而,大多数复发和死亡病例都有KIAA1549::BRAF融合。在200个PA中,KIAA1549::通过qRT-PCR和FISH在64%和74%的病例中检测到BRAF融合,分别。两个平台之间的一致性很大(86%)。
结论:KIAA1549::BRAF融合在PA中普遍存在,可以使用FISH和qRT-PCR检测可靠。成本考虑表明qRT-PCR是常规临床实践中融合检测的更经济的选择。
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 %).
CONCLUSIONS: 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.