目的:原发性脊髓胶质母细胞瘤(scGB)是一种罕见的侵袭性脊髓胶质瘤,占此类案件的7.5%。尽管与改善总体生存率(OS)相关的分子谱在颅骨胶质母细胞瘤(GB)中得到了很好的研究,scGB的分子特征记录较少。这篇综述试图记录scGB的分子特征,探索当前的治疗策略,并评估临床结果。
方法:遵循PRISMA指南的系统文献综述搜索了PubMed,Embase,和CENTRAL数据库(2013年1月1日至2023年10月14日)使用胶质母细胞瘤-,脊柱-,和遗传学相关的关键词。纳入标准是对组织学证实的原发性scGB的人类的英语文章,排除液滴转移。关于人口特征的数据,治疗,分子分布,并提取了结果。
结果:超过10年,31篇论文报道了71例成人原发性scGB患者。大多数患者位于亚洲(53%)和美国(23%)。中位(范围)年龄为32(24-47)岁,61%的患者为男性。肿瘤主要发生在胸部(42%)。临床表现包括运动障碍(92%),感觉缺陷(86%),颈部/背部疼痛(68%),肠/膀胱功能障碍(59%)。患者接受次全切除术(51%),总切除(GTR)(23%),活检(26%)。术后辅助治疗包括在大多数情况下(66%)伴随的外部束放射治疗(XRT)和替莫唑胺(TMZ),以及无辅助治疗的姑息治疗(17%)。scGB的分子特征在MGMT启动子甲基化方面与其颅骨对应物相似(甲基化增加40%),突变型TERT更高(50%),但野生型肿瘤蛋白p53降低(突变减少41%)。中位(范围)OS为10(6-18)个月,中位无进展生存期(PFS)为7(3-10)个月。接受XRT/TMZ治疗的患者的PFS显着升高:中位数为15个月vs4.5个月(95%CI-1.32至22.56,p<0.05)。
结论:原发性scGB仍然是一种罕见的疾病,在治疗方面存在显著差异,可能受到地理可用性的影响。观察到的分子分布,与颅骨GB相比,强调需要进一步的基因组验证和数据收集。克服完成GTR的挑战的手术进步可能有助于改善OS。
OBJECTIVE: Primary spinal cord glioblastoma (scGB) is a rare and aggressive spinal glioma, making up 7.5% of such cases. Whereas molecular profiles associated with improved overall survival (OS) are well studied for cranial glioblastoma (GB), the molecular characteristics of scGB are less documented. This review sought to document the molecular signatures of scGB, explore current treatment strategies, and evaluate clinical outcomes.
METHODS: A systematic literature review following the PRISMA guidelines searched the PubMed, Embase, and CENTRAL databases (January 1, 2013, to October 14, 2023) using glioblastoma-, spine-, and genetics-related keywords. Inclusion criteria were English-language articles on humans with histologically confirmed primary scGB, excluding drop metastases. Data on demographic characteristics, treatments, molecular profile, and outcome were extracted.
RESULTS: Over 10 years, 71 patients with adult primary scGB were reported in 31 papers. Most patients were located in Asia (53%) and the United States (23%). The median (range) age was 32 (24-47) years, with 61% of patients male. Tumors occurred primarily in the thoracic region (42%). Clinical presentation included motor deficits (92%), sensory deficits (86%), neck/back pain (68%), and bowel/bladder dysfunction (59%). Patients underwent subtotal resection (51%), gross-total resection (GTR) (23%), and biopsy (26%). Postoperative adjuvant treatment included concomitant external beam radiation therapy (XRT) and temozolomide (TMZ) in the majority of cases (66%), as well as palliative care without adjuvant treatment (17%). The molecular signature of scGB was similar to its cranial counterpart in terms of MGMT-promoter methylation (40% increased methylation) and higher for mutant TERT (50%) but decreased for wild-type tumor protein p53 (41% decreased mutation). Median (range) OS was 10 (6-18) months, and median progression-free survival (PFS) was 7 (3-10) months. PFS was significantly higher in patients treated with XRT/TMZ: median 15 months vs 4.5 months (95% CI -1.32 to 22.56, p < 0.05).
CONCLUSIONS: Primary scGB remains a rare disease with notable variations in treatment, potentially influenced by geographical availability. The observed molecular profile, when compared to that of cranial GB, emphasizes the need for further genomic validation and data collection. Surgical advancements to overcome the challenges of accomplishing GTR may contribute to improved OS.