Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Brain Pathol. 2023 Sep;33(5):e13185. doi: 10.1111/bpa.13185. Epub 2023 Jul 3.
Fusions involving CRAF (RAF1) are infrequent oncogenic drivers in pediatric low-grade gliomas, rarely identified in tumors bearing features of pilocytic astrocytoma, and involving a limited number of known fusion partners. We describe recurrent TRAK1::RAF1 fusions, previously unreported in brain tumors, in three pediatric patients with low-grade glial-glioneuronal tumors. We present the associated clinical, histopathologic and molecular features. Patients were all female, aged 8 years, 15 months, and 10 months at diagnosis. All tumors were located in the cerebral hemispheres and predominantly cortical, with leptomeningeal involvement in 2/3 patients. Similar to previously described activating RAF1 fusions, the breakpoints in RAF1 all occurred 5' of the kinase domain, while the breakpoints in the 3' partner preserved the N-terminal kinesin-interacting domain and coiled-coil motifs of TRAK1. Two of the three cases demonstrated methylation profiles (v12.5) compatible with desmoplastic infantile ganglioglioma (DIG)/desmoplastic infantile astrocytoma (DIA) and have remained clinically stable and without disease progression/recurrence after resection. The remaining tumor was non-classifiable; with focal recurrence 14 months after initial resection; the patient remains symptom free and without further recurrence/progression (5 months post re-resection and 19 months from initial diagnosis). Our report expands the landscape of oncogenic RAF1 fusions in pediatric gliomas, which will help to further refine tumor classification and guide management of patients with these alterations.
CRAF(RAF1)融合是儿童低级别胶质瘤中罕见的致癌驱动基因,在具有毛细胞星形细胞瘤特征的肿瘤中很少被发现,并且涉及数量有限的已知融合伙伴。我们描述了三个患有低级别胶质神经胶质肿瘤的儿科患者中以前未在脑肿瘤中报道的复发性 TRAK1::RAF1 融合。我们介绍了相关的临床、组织病理学和分子特征。患者均为女性,诊断时年龄分别为 8 岁、15 个月和 10 个月。所有肿瘤均位于大脑半球,主要位于皮质,2/3 的患者有软脑膜受累。与先前描述的激活 RAF1 融合一样,RAF1 的断点均发生在激酶结构域的 5'端,而 3'端伙伴的断点保留了 TRAK1 的 N 端驱动蛋白相互作用结构域和卷曲螺旋结构域。三个病例中的两个显示了与促结缔组织增生性婴儿性神经节胶质瘤(DIG)/促结缔组织增生性婴儿性星形细胞瘤(DIA)相符的甲基化谱(v12.5),在切除后临床稳定且无疾病进展/复发。其余肿瘤不可分类;初始切除后 14 个月出现局灶性复发;患者无症状,无进一步复发/进展(初始诊断后 5 个月再次切除后 19 个月)。我们的报告扩展了儿科胶质瘤中致癌 RAF1 融合的范围,这将有助于进一步完善肿瘤分类,并指导这些改变患者的管理。