BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum
BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum
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DOI：
10.1097/nen.0000000000000226
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发表时间：
2015-09-01
影响因子：
3.2
通讯作者：
Kurian, Kathreena Mary
中科院分区：
文献类型：
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作者：
Faulkner, Claire;Ellis, Hayley Patricia;Kurian, Kathreena Mary
毛细胞型星形细胞瘤（PA）越来越多地测试KIAA 1549-BRAF融合。我们使用逆转录聚合酶链反应的3个最常见的KIAA 1549-BRAF融合，以及BRAF V600 E和组蛋白H3.3 K27 M分析，以确定这些分子特征与临床特征的关系，在一个队列的32例PA患者。在该组中，总体BRAF融合检出率为24例（75%）。24例患者中有10例（42%）进行了16-9融合，8例（33%）仅进行了15-9融合，1例（4%）仅进行了16-11融合。在仅15-9融合的PA中，1个PA位于小脑，7个集中在小脑外的中线，即下丘脑（n = 4）、视路（n = 2）和脑干（n = 1）。小脑内的肿瘤与融合呈负相关15-9。32例患者中有7例（22%）发生肿瘤相关死亡，25例患者（78%）在初次活检后2 - 14年存活。年龄、性别、肿瘤位置、16-9融合和15-9融合与总生存率无关。因此，在这个小队列中，15-9 KIAA 1549-BRAF融合与位于小脑外的中线PA相关;这些肿瘤通常难以切除，易于复发。
Pilocytic astrocytomas (PAs) are increasingly tested for KIAA1549-BRAF fusions. We used reverse transcription polymerase chain reaction for the 3 most common KIAA1549-BRAF fusions, together with BRAF V600E and histone H3.3 K27M analyses to identify relationships of these molecular characteristics with clinical features in a cohort of 32 PA patients. In this group, the overall BRAF fusion detection rate was 24 (75%). Ten (42%) of the 24 had the 16-9 fusion, 8 (33%) had only the 15-9 fusion, and 1 (4%) of the patients had only the 16-11 fusion. In the PAs with only the 15-9 fusion, 1 PA was in the cerebellum and 7 were centered in the midline outside of the cerebellum, that is, in the hypothalamus (n = 4), optic pathways (n = 2), and brainstem (n = 1). Tumors within the cerebellum were negatively associated with fusion 15-9. Seven (22%) of the 32 patients had tumor-related deaths and 25 of the patients (78%) were alive between 2 and 14 years after initial biopsy. Age, sex, tumor location, 16-9 fusion, and 15-9 fusion were not associated with overall survival. Thus, in this small cohort, 15-9 KIAA1549-BRAF fusion was associated with midline PAs located outside of the cerebellum; these tumors, which are generally difficult to resect, are prone to recurrence.