背景:成人脑干神经胶质瘤是罕见的实体,表现出异质性的生物学,并且似乎与小儿和成人幕上神经胶质瘤不同。虽然组蛋白3突变在这种疾病中的作用越来越被理解,异柠檬酸脱氢酶(IDH)突变的影响尚不清楚,主要是因为数据有限。
方法:作者介绍了一个29岁男性的IDH1突变体,世界卫生组织3级间变性星形细胞瘤,他们提供了有关成人IDH突变型脑干神经胶质瘤的现有文献的综述。作者已经收集了15名这样的患者,其中7人有生存数据。在这个小队列中,中位生存期为56个月,这与IDH野生型成人脑干胶质瘤相似。
结论:作者的工作再次强化了以前的文献,认为IDH突变在神经胶质瘤中的作用在脑干和幕上病变之间不同。因此,作者主张成人脑干胶质瘤应根据主要分子亚组(包括IDH突变体)进行研究,因为这些胶质瘤可能表现出彼此的根本差异,来自小儿脑干胶质瘤,来自成人幕上神经胶质瘤。
BACKGROUND: Adult brainstem gliomas are rare entities that demonstrate heterogeneous biology and appear to be distinct from both their pediatric counterparts and adult supratentorial gliomas. Although the role of histone 3 mutations is being increasingly understood in this disease, the effect of isocitrate dehydrogenase (
IDH) mutations remains unclear, largely because of limited data.
METHODS: The authors present the
case of a 29-year-old male with an IDH1-mutant, World Health Organization grade III anaplastic astrocytoma in the dorsal medulla, and they provide a review of the available literature on adult IDH-mutant brainstem glioma. The authors have amassed a cohort of 15 such patients, 7 of whom have survival data available. Median survival is 56 months in this small cohort, which is similar to that for
IDH wild-type adult brainstem gliomas.
CONCLUSIONS: The authors\' work reenforces previous literature suggesting that the role of
IDH mutation in glioma differs between brainstem and supratentorial lesions. Therefore, the authors advocate that adult brainstem gliomas be studied in terms of major molecular subgroups (including
IDH mutant) because these gliomas may exhibit fundamental differences from each other, from pediatric brainstem gliomas, and from adult supratentorial gliomas.