Ye Vincent C, Landry Alexander P, Purzner Teresa, Kalyvas Aristotelis, Mohan Nilesh, O'Halloran Philip J, Gao Andrew, Zadeh Gelareh
Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.
Department of Pathology, University Health Network, Toronto, Ontario, Canada; and.
J Neurosurg Case Lessons. 2021 Mar 22;1(12):CASE2078. doi: 10.3171/CASE2078.
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.
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.
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.
成人脑干胶质瘤是罕见的实体瘤，其生物学特性具有异质性，似乎与儿童脑干胶质瘤及成人幕上胶质瘤均不同。尽管组蛋白3突变在该疾病中的作用越来越为人所知，但异柠檬酸脱氢酶（IDH）突变的影响仍不明确，主要原因是数据有限。
作者报告了1例29岁男性患者，其延髓背侧发生IDH1突变的世界卫生组织III级间变性星形细胞瘤，并对成人IDH突变型脑干胶质瘤的现有文献进行了综述。作者收集了15例此类患者，其中7例有生存数据。在这个小队列中，中位生存期为56个月，与IDH野生型成人脑干胶质瘤相似。
作者的研究强化了先前的文献观点，即IDH突变在胶质瘤中的作用在脑干和幕上病变之间存在差异。因此，作者主张根据主要分子亚组（包括IDH突变型）对成人脑干胶质瘤进行研究，因为这些胶质瘤可能彼此之间、与儿童脑干胶质瘤以及成人幕上胶质瘤存在根本差异。
