Departments of1Neurosurgery.
2Radiology, and.
J Neurosurg. 2018 Jul;129(1):27-34. doi: 10.3171/2017.4.JNS163113. Epub 2017 Oct 6.
OBJECTIVE Treatment with a BRAF mutation inhibitor might shrink otherwise refractory craniopharyngiomas and is a promising preoperative treatment to facilitate tumor resection. The aim of this study was to investigate the noninvasive diagnosis of BRAF-mutated craniopharyngiomas based on MRI characteristics. METHODS Fifty-two patients with pathologically diagnosed craniopharyngioma were included in this study. Polymerase chain reaction was performed on tumor tissue specimens to detect BRAF and CTNNB1 mutations. MRI manifestations-including tumor location, size, shape, and composition; signal intensity of cysts; enhancement pattern; pituitary stalk morphology; and encasement of the internal carotid artery-were analyzed by 2 neuroradiologists blinded to patient identity and clinical characteristics, including BRAF mutation status. Results were compared between the BRAF-mutated and wild-type (WT) groups. Characteristics that were significantly more prevalent (p < 0.05) in the BRAF-mutated craniopharyngiomas were defined as diagnostic features. The minimum number of diagnostic features needed to make a diagnosis was determined by analyzing the receiver operating characteristic (ROC) curve. RESULTS Eight of the 52 patients had BRAF-mutated craniopharyngiomas, and the remaining 44 had BRAF WT tumors. The clinical characteristics did not differ significantly between the 2 groups. Interobserver agreement for MRI data analysis was relatively reliable, with values of Cohen κ ranging from 0.65 to 0.97 (p < 0.001). A comparison of findings in the 2 patient groups showed that BRAF-mutated craniopharyngiomas tended to be suprasellar (p < 0.001), spherical (p = 0.005), predominantly solid (p = 0.003), and homogeneously enhancing (p < 0.001), and that patients with these tumors tended to have a thickened pituitary stalk (p = 0.014). When at least 3 of these 5 features were present, a tumor might be identified as BRAF mutated with a sensitivity of 1.00 and a specificity of 0.91. The area under the ROC curve for the sum of all 5 diagnostic criteria was 0.989 (p < 0.001). CONCLUSIONS The BRAF mutation status of craniopharyngiomas might be predicted using certain MRI features with relatively high sensitivity and specificity, thus offering potential guidance for the preoperative administration of BRAF mutation inhibitors.
BRAF 突变抑制剂的治疗可能会使原本难治的颅咽管瘤缩小,并且是一种有前途的术前治疗方法,可以促进肿瘤切除。本研究的目的是基于 MRI 特征探讨 BRAF 突变颅咽管瘤的无创诊断。
本研究纳入了 52 例经病理诊断为颅咽管瘤的患者。对肿瘤组织标本进行聚合酶链反应以检测 BRAF 和 CTNNB1 突变。由 2 名神经放射科医生对 MRI 表现(包括肿瘤位置、大小、形状和成分;囊肿的信号强度;增强模式;垂体柄形态;颈内动脉包埋)进行分析,他们对患者身份和临床特征(包括 BRAF 突变状态)不知情。比较 BRAF 突变组和野生型(WT)组之间的结果。在 BRAF 突变颅咽管瘤中更常见(p < 0.05)的特征被定义为诊断特征。通过分析接收者操作特征(ROC)曲线确定做出诊断所需的最小诊断特征数。
52 例患者中有 8 例为 BRAF 突变型颅咽管瘤,其余 44 例为 BRAF WT 肿瘤。两组患者的临床特征无显著差异。MRI 数据分析的观察者间一致性相对可靠,Cohen κ 值范围为 0.65 至 0.97(p < 0.001)。对两组患者的检查结果进行比较发现,BRAF 突变型颅咽管瘤倾向于鞍上(p < 0.001)、球形(p = 0.005)、主要为实性(p = 0.003)且均匀增强(p < 0.001),并且这些肿瘤患者的垂体柄往往增厚(p = 0.014)。当存在至少 3 个上述 5 个特征时,肿瘤可能被鉴定为 BRAF 突变,其敏感性为 1.00,特异性为 0.91。所有 5 个诊断标准总和的 ROC 曲线下面积为 0.989(p < 0.001)。
使用具有较高敏感性和特异性的某些 MRI 特征可能预测颅咽管瘤的 BRAF 突变状态,从而为 BRAF 突变抑制剂的术前给药提供潜在指导。