Intramedullary spinal cord tumors (IMSCTs) harbor unique genetic mutations which may play a role in prognostication and management. To this end, we present the largest cohort of IMSCTs with genetic characterization in the literature from our multi-site institutional registry. A total of 93 IMSCT patient records were reviewed from the years 1999 to 2020. Out of these, 61 complied with all inclusion criteria, 14 of these patients had undergone genetic studies with 8 undergoing whole-genomic sequencing. Univariate analyses were used to assess any factors associated with progression-free survival (PFS) using the Cox proportional hazards model. Firth’s penalized likelihood approach was used to account for the low event rates. Fisher’s exact test was performed to compare whole-genome analyses and specific gene mutations with progression. PFS (months) was given as a hazard ratio. Only the absence of copy neutral loss of heterozygosity (LOH) was shown to be significant (0.05,p= 0.008). Additionally, higher risk of recurrence/progression was associated with LOH (p= 0.0179). Our results suggest LOH as a genetic predictor of shorter progression-free survival, particularly within ependymoma and glioblastoma tumor types. Further genomic research with larger multi-institutional datasets should focus on these mutations as possible prognostic factors.
髓内脊髓肿瘤具有独特的基因突变，这些突变可能在预后判断和治疗管理中发挥作用。为此，我们基于多中心机构登记库，提出了文献中规模最大且具有基因特征描述的髓内脊髓肿瘤队列研究。本研究回顾了1999年至2020年间共93例髓内脊髓肿瘤患者的记录，其中61例符合所有纳入标准。在这61例患者中，14例接受了基因检测，其中8例进行了全基因组测序。研究采用Cox比例风险模型进行单变量分析，评估与无进展生存期相关的各项因素。针对低事件发生率的情况，采用Firth惩罚似然法进行校正。通过Fisher精确检验比较全基因组分析及特定基因突变与疾病进展的关联性。无进展生存期（以月计）以风险比形式呈现。结果显示，仅拷贝中性杂合性缺失的缺失状态具有统计学意义（0.05，p=0.008）。此外，杂合性缺失与更高的复发/进展风险相关（p=0.0179）。我们的研究结果表明，杂合性缺失可作为无进展生存期缩短的基因预测指标，尤其在室管膜瘤和胶质母细胞瘤类型中表现显著。未来基于更大规模多机构数据集的基因组研究应重点关注这些突变作为潜在预后因素的价值。
Intramedullary Spinal Cord Tumors: Whole-Genome Sequencing to Assist Management and Prognosis
肿瘤(癌症)患者之家