低级别星形细胞瘤中的异柠檬酸脱氢酶1（IDH1）突变可预测生存期，但不能预测对替莫唑胺的反应。
IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide.
作者信息
Dubbink H J, Taal W, van Marion R, Kros J M, van Heuvel I, Bromberg J E, Zonnenberg B A, Zonnenberg C B L, Postma T J, Gijtenbeek J M M, Boogerd W, Groenendijk F H, Smitt P A E Sillevis, Dinjens W N M, van den Bent M J
机构信息
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
出版信息
Neurology. 2009 Nov 24;73(21):1792-5. doi: 10.1212/WNL.0b013e3181c34ace.
BACKGROUND
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) have been implicated in tumorigenesis of gliomas. Patients with high-grade astrocytomas with IDH1 or IDH2 mutations were reported to have a better survival, but it is unknown if this improved survival also holds for low-grade astrocytoma and whether these mutations predict outcome to specific treatment.
METHODS
We retrospectively investigated the correlation of IDH1 and IDH2 mutations with overall survival and response to temozolomide in a cohort of patients with dedifferentiated low-grade astrocytomas treated with temozolomide at the time of progression after radiotherapy.
RESULTS
IDH1 mutations were present in 86% of the 49 progressive astrocytomas. No mutations in IDH2 were found. Presence of IDH1 mutations were early events and significantly improved overall survival (median survival 48 vs 98 months), but did not affect outcome of temozolomide treatment.
CONCLUSION
These results indicate that IDH1 mutations identify a subgroup of gliomas with an improved survival, but are unrelated to the temozolomide response.
背景
异柠檬酸脱氢酶1和2（IDH1和IDH2）的突变与胶质瘤的肿瘤发生有关。据报道，携带IDH1或IDH2突变的高级别星形细胞瘤患者生存期更长，但尚不清楚这种生存期的改善是否也适用于低级别星形细胞瘤，以及这些突变是否能预测特定治疗的结果。
方法
我们回顾性研究了在放疗进展时接受替莫唑胺治疗的去分化低级别星形细胞瘤患者队列中，IDH1和IDH2突变与总生存期及对替莫唑胺反应的相关性。
结果
49例进展性星形细胞瘤中86%存在IDH1突变。未发现IDH2突变。IDH1突变的出现为早期事件，显著改善了总生存期（中位生存期48个月对98个月），但不影响替莫唑胺治疗的结果。
结论
这些结果表明，IDH1突变可识别出一组生存期改善的胶质瘤亚组，但与替莫唑胺反应无关。
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