Pilocytic astrocytoma harboring a novel GNAI3-BRAF fusion.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2023-10-01 Epub Date: 2023-02-14 DOI:10.1111/neup.12896
Ruihe Lin, Alicia Kenyon, Zi-Xuan Wang, Jingli Cai, Lorraine Iacovitti, Lawrence C Kenyon
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Abstract

Pilocytic astrocytoma (PA), a central nervous system (CNS) World Health Organization grade 1 tumor, is mainly seen in children or young adults aged 5-19. Surgical resection often provides excellent outcomes, but residual tumors may still remain. This low-grade tumor is well recognized for its classic radiological and morphological features; however, some unique molecular findings have been unveiled by the application of next-generation sequencing (NGS). Among the genetic abnormalities identified in this low-grade tumor, increasing evidence indicates that BRAF alterations, especially BRAF fusions, play an essential role in PA tumorigenesis. Among the several fusion partner genes identified in PAs, KIAA1549-BRAF fusion is notably the most common detectable genetic alteration, especially in the cerebellar PAs. Here, we report a case of a young adult patient with a large, right-sided posterior fossa cerebellar and cerebellopontine angle region mass consistent with a PA. Of note, NGS detected a novel GNAI3-BRAF fusion, which results in an in-frame fusion protein containing the kinase domain of BRAF. This finding expands the knowledge of BRAF fusions in the tumorigenesis of PAs, provides an additional molecular signature for diagnosis, and a target for future therapy.

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毛细胞星形细胞瘤携带一种新的GNAI3-BRAF融合。
毛细胞星形细胞瘤(PA)是世界卫生组织的一种中枢神经系统(CNS)1级肿瘤,主要见于5-19岁的儿童或年轻人。手术切除通常能提供良好的结果,但残留的肿瘤可能仍然存在。这种低级别肿瘤因其典型的放射学和形态学特征而被公认;然而,下一代测序(NGS)的应用已经揭示了一些独特的分子发现。在这种低级别肿瘤中发现的遗传异常中,越来越多的证据表明BRAF改变,特别是BRAF融合,在PA肿瘤发生中起着重要作用。在PA中鉴定的几种融合伴侣基因中,KIAA1549-BRAF融合是最常见的可检测基因改变,尤其是在小脑PA中。在这里,我们报告了一例年轻成年患者,其右侧小脑后窝和桥小脑角区域的大肿块与PA一致。值得注意的是,NGS检测到了一种新的GNAI3-BRAF融合,其产生了一种含有BRAF激酶结构域的帧内融合蛋白。这一发现扩展了BRAF融合在PAs肿瘤发生中的知识,为诊断提供了额外的分子特征,并为未来的治疗提供了靶点。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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