College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Department of Neurosurgery, Johns Hopkins Hospital, Baltimore, Maryland, USA.
World Neurosurg. 2022 Sep;165:e251-e264. doi: 10.1016/j.wneu.2022.06.020. Epub 2022 Jun 10.
The objective of the study was to summarize the clinical characteristics, histo-genomic profiles, management strategies, and survival outcomes of H3K27M-altered adult diffuse midline gliomas (aDMGs).
PubMed, Scopus, and Cochrane databases were used to identify relevant articles. Papers including H3K27M-altered aDMGs with sufficient clinical outcome data were included. Descriptive clinical characteristics and survival analysis were also conducted.
Twenty studies describing 135 patients were included. The median age at diagnosis was 42 years, and there was a slight male predominance (N = 60, 54%). In our cohort, 15 (11%) patients experienced headache, 10 had nausea and vomiting (7%), and 10 had ataxia (7%). Within this cohort, histopathologic diagnoses included glioblastoma (N = 22, 40%) and anaplastic astrocytoma (N = 21, 38%), while genetic alterations included ATRX mutation (N = 22, 16%), PTPN11 mutation (N = 9, 7%), and MGMT promoter methylation (N = 9, 7%). Among histo-genetic alterations, only ATRX mutation was associated with survival and correlated with worse prognosis (log-rank test, P = 0.04). Neither surgical resection versus biopsy nor greater extent of resection demonstrated survival benefit in our cohort. Chemotherapy was administered in 98 (73%) cases with radiotherapy administered in 71 (53%) cases. Unlike chemotherapy, radiotherapy demonstrated a significant survival benefit (log-rank test, P = 0.019). The median overall survival and progression-free survival within our patient cohort were 10 and 7 months, respectively.
H3K27M-altered aDMGs were associated with relatively poor survival. ATRX gene mutation was significantly associated with survival disadvantage, while radiotherapy was associated with survival benefit. Large, prospective studies are needed to establish a standard management strategy and provide reliable prognostic conclusions.
本研究旨在总结 H3K27M 突变型成人弥漫性中线胶质瘤(aDMG)的临床特征、组织基因组特征、治疗策略和生存结果。
使用 PubMed、Scopus 和 Cochrane 数据库检索相关文献。纳入包含 H3K27M 突变型 aDMG 且具有充足临床结局数据的研究。进行描述性临床特征和生存分析。
纳入 20 项研究共 135 例患者。诊断时的中位年龄为 42 岁,男性略占优势(N=60,54%)。在本队列中,15 例(11%)患者有头痛,10 例有恶心和呕吐(7%),10 例有共济失调(7%)。在本队列中,组织病理学诊断包括胶质母细胞瘤(N=22,40%)和间变性星形细胞瘤(N=21,38%),遗传改变包括 ATRX 突变(N=22,16%)、PTPN11 突变(N=9,7%)和 MGMT 启动子甲基化(N=9,7%)。在组织遗传学改变中,只有 ATRX 突变与生存相关,且与预后不良相关(对数秩检验,P=0.04)。在本队列中,手术切除与活检或更大程度的切除均未显示生存获益。98 例(73%)患者接受了化疗,71 例(53%)患者接受了放疗。与化疗不同,放疗显示出显著的生存获益(对数秩检验,P=0.019)。本患者队列的中位总生存和无进展生存分别为 10 个月和 7 个月。
H3K27M 突变型 aDMG 患者的生存情况较差。ATRX 基因突变与生存劣势显著相关,而放疗与生存获益相关。需要进行大型前瞻性研究,以制定标准治疗策略并提供可靠的预后结论。