Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Cancer Sci. 2014 Mar;105(3):359-62. doi: 10.1111/cas.12337.
We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH2 mutation in multiple tissues and TP53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. This case is unique and supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.
我们报告了一例 24 岁女性，诊断为患有软黏液瘤综合征伴间变性星形细胞瘤。我们分析了软骨瘤、血管瘤和间变性星形细胞瘤组织中的 IDH1 和 IDH2 突变，发现所有这些组织中均存在相同的 IDH2 基因体细胞镶嵌突变。此外，我们在间变性星形细胞瘤组织中发现了 TP53 基因的其他突变，但在其他良性肿瘤中没有发现。这是首例报道在 Maffucci 综合征患者中，在多个组织中检测到相同的 IDH2 突变和在间变性星形细胞瘤中检测到 TP53 突变。该病例较为独特，支持 IDH2 依赖性遗传途径和胶质瘤发生的二次打击模型。
