No prognostic value of IDH1 mutations in a series of 100 WHO grade II astrocytomas
No prognostic value of IDH1 mutations in a series of 100 WHO grade II astrocytomas
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DOI：
10.1007/s11060-012-0863-y
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发表时间：
2012-08-01
影响因子：
3.9
通讯作者：
Hartmann, Christian
中科院分区：
文献类型：
--
作者：
Ahmadi, Rezvan;Stockhammer, Florian;Hartmann, Christian
编码异柠檬酸脱氢酶1（IDH 1）的基因突变已在约70- 80%的WHO II级和III级星形细胞瘤和少突胶质细胞瘤以及继发性胶质母细胞瘤中鉴定。此外，在这些肿瘤中检测到IDH 2突变的低发生率，并且IDH 1和IDH 2突变的发生是相互排斥的。对于IDH 1突变的间变性胶质瘤和胶质母细胞瘤患者，总生存期明显长于野生型肿瘤患者。然而，IDH 1在低级别胶质瘤中的预后价值仍然不明确。IDH 1密码子132和IDH 2密码子172的突变状态通过直接测序确定了100例组织学诊断为星形细胞瘤WHO格拉德II（A II）的回顾性系列，并研究了与患者预后的相关性。对于分析的患者队列，中位无进展生存期（PFS）为44.6个月（95%-CI 1.0-267.0），至进展时间（至恶性进展的中位时间（TtMP））为74.9个月（95%-CI 1.6-236.2），中位总生存期（OS）为81.4个月（95%-CI 5.5-274.8）。在79%的患者中鉴定出IDH 1突变。未观察到IDH 2突变。单变量和多变量分析显示IDH 1突变状态与PFS、TtMP和OS之间无相关性。此外，未接受辅助治疗的IDH 1突变患者与未接受辅助治疗的IDH 1突变患者之间的PFS、TtMP和OS无显著差异。与高级别胶质瘤相比，低级别星形细胞瘤中IDH 1突变的预后价值相当低。
Mutations in the gene encoding isocitrate dehydrogenase 1 (IDH1) have been identified in approximately 70-80 % of astrocytomas and oligodendrogliomas of WHO grades II and III, and in secondary glioblastomas. In addition, a low incidence of IDH2 mutations has been detected in these tumors, and the occurence of IDH1 and IDH2 mutations is mutually exclusive. For patients with anaplastic gliomas and glioblastomas with IDH1 mutations, overall survival was significantly longer than for patients with wild-type tumours. However, the prognostic value of IDH1 in low-grade gliomas remains ambiguous. IDH1 codon 132 and IDH2 codon 172 mutation status were determined by direct sequencing for a retrospective series of 100 patients with histologically diagnosed Astrocytomas WHO Grad II (A II), and investigated for association with patient outcome. For the patient cohort analysed, median progression-free survival (PFS) was 44.6 months (95 %-CI 1.0-267.0), time to progression (median time to malignant progression (TtMP) was 74.9 months (95 %-CI 1.6-236.2), and median overall survival (OS) was 81.4 months (95 %-CI 5.5-274.8). IDH1 mutations were identified in 79 % of the patients. IDH2 mutations were not observed. Univariate and multivariate analysis revealed no association between IDH1 mutation status and PFS, TtMP, and OS. Furthermore, there were no significant differences regarding PFS, TtMP, and OS between patients with and without IDH1 mutations who did not receive adjuvant treatment. The prognostic value of IDH1 mutations in low-grade astrocytomas is rather low compared with that in high-grade gliomas.