Department of Pathology, University of Kentucky, MS-155, 800 Rose Street, Lexington, KY 40536, USA.
Neuro Oncol. 2012 Jun;14(6):777-89. doi: 10.1093/neuonc/nos077. Epub 2012 Apr 5.
BRAF rearrangements and BRAF V600E point mutations are recurring events in pediatric low-grade gliomas. However, their clinical significance, including possible interactions between these markers and other glioma biomarkers, is unclear. In this study a retrospective cohort of 198 pediatric low-grade gliomas (including 40 treated with adjuvant therapy) was analyzed for BRAF rearrangements, BRAF V600E, p16/CDKN2A deletion, p53 expression, and MIB1 proliferation index. In tumors with BRAF rearrangement, homozygous p16 deletion correlated with shorter progression-free survival (P = .04). A high MIB1 proliferation index trended toward worse response to adjuvant radiotherapy compared to BRAF-rearranged, p16-intact tumors (P = .08). On multivariate analysis, the 2 most consistently powerful independent adverse prognostic markers were midline location (P = .0001) and p16 deletion (P = .03). Tumors with BRAF V600E had a strong trend toward an increased risk for progression (hazard ratio = 2.48, P = .07), whereas those with BRAF rearrangement had a milder trend toward reduced risk (hazard ratio = .54, P = .15). These data suggest that p16 deletion adversely impacts the outcomes of BRAF-driven gliomas, that high proliferation index may be a better marker of progression risk than BRAF, that BRAF rearrangement and BRAF V600E might not necessarily produce comparable outcomes, and that none of these markers is stronger than tumor location in determining prognosis in pediatric low-grade gliomas.
BRAF 重排和 BRAF V600E 点突变是儿童低级别胶质瘤的常见事件。然而,这些标志物的临床意义,包括与其他胶质瘤标志物的可能相互作用,尚不清楚。本研究回顾性分析了 198 例儿童低级别胶质瘤(包括 40 例接受辅助治疗的病例),分析了 BRAF 重排、BRAF V600E、p16/CDKN2A 缺失、p53 表达和 MIB1 增殖指数。在存在 BRAF 重排的肿瘤中,p16 缺失的纯合子与无进展生存期(P =.04)缩短相关。与 BRAF 重排、p16 完整的肿瘤相比,高 MIB1 增殖指数倾向于对辅助放疗的反应较差(P =.08)。多变量分析显示,2 个最一致的独立不良预后标志物是中线位置(P =.0001)和 p16 缺失(P =.03)。具有 BRAF V600E 的肿瘤进展风险有增加的趋势(危险比=2.48,P =.07),而具有 BRAF 重排的肿瘤则有降低的风险趋势(危险比=0.54,P =.15)。这些数据表明,p16 缺失对 BRAF 驱动的胶质瘤的结局有不利影响,高增殖指数可能是比 BRAF 更好的进展风险标志物,BRAF 重排和 BRAF V600E 可能不会产生可比的结果,而且这些标志物都不如肿瘤位置在确定儿童低级别胶质瘤的预后方面重要。