Additional file 3: of Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

Figure S2a-c. A 38â year old female presented with burn-out complaints and several episodes suggestive of partial seizures. MR (Fluid Attenuated Inverse Recovery) images showed a small area of increased signal intensity on T2 weighted MR images with unclear boundaries and without contrast uptake (a). The lesion was resected, histology showed some cell increase without clear evidence of tumor (b, H & E stain, 100 x magnification). IDH immunohistochemistry for the R132H mutation did not show positivity in the examined region (c). On next generation sequencing, an IDH mutation (c.395â >â A;p.132H) was found and a pattern suggestive of 1p/19q codeletion. The interpretation of the copy number alterations was hampered by by the low tumor cell percentage. (ZIP 1435 kb)

图S2a-c。一名38岁女性因倦怠症状及数次疑似部分性癫痫发作就诊。磁共振液体衰减反转恢复（Fluid Attenuated Inverse Recovery, FLAIR）成像显示，T2加权磁共振图像上存在一小片信号强度增高区域，边界不清且无对比剂强化（a）。该病灶被手术切除，组织病理学检查可见细胞轻度增生，未见明确肿瘤证据（b，苏木精-伊红（H&E）染色，放大100倍）。针对R132H突变的异柠檬酸脱氢酶（IDH）免疫组化检测在受检区域未呈现阳性结果（c）。二代测序检测发现存在IDH突变（c.395>A；p.132H），同时呈现1p/19q共缺失的特征性模式。由于肿瘤细胞占比偏低，拷贝数变异的判读受到一定限制。（ZIP 1435 kb）