原发性胶质母细胞瘤的临床与分子病理学特征及其预后相关因素分析

目的探讨原发性胶质母细胞瘤（PGBM）的临床和分子病理学特征，以及影响其预后的相关因素。方法回顾性分析2021年1月—2022年7月安徽医科大学附属省立医院收治的49例经手术切除的PGBM患者的临床资料和分子病理结果，包括性别、年龄、肿瘤切除程度、术后治疗方式以及MGMT启动子甲基化、TP53突变、CDK4/6扩增、NF1基因突变等基因表达情况。利用统计学方法对这些临床特征及基因突变与患者的无进展生存期和总生存期进行相关性分析。结果男性患者（65.30%）较女性患者（34.70%）更多见。肿瘤大体全切除81.60%，次全切除+部分切除18.4%。术后以标准同步放化疗为主（63.30％）。分子病理检测方面，MGMT启动子甲基化阳性55.10%，TP53突变38.78%，CDK4/6扩增占48.98%，NF1基因突变占28.57%。相关性分析显示，EOR、术后同步放化疗、MGMT启动子甲基化、TP53突变和CDK4/6扩增是影响患者预后的独立因素（P＜0.05）；NF1基因突变与患者的预后无明显相关性（P＞0.05）。结论PGBM患者的临床特征和部分基因突变与预后密切相关。年龄、肿瘤切除程度、术后治疗方式和MGMT启动子甲基化、TP53突变、CDK4/6扩增可能是预测PGBM患者预后的重要指标，而NF1基因突变对预后的影响尚需更多研究来确认。这些发现有助于优化PGBM患者的个体化治疗方案和预后评估策略。

Objective To explore the clinical and molecular pathological features of primary glioblastoma(PGBM), along with the factors influencing its prognosis. Methods The clinical data and molecular pathology results of 49 PGBM patients who underwent surgical resection in the Affiliated Provincial Hospital of Anhui Medical University from January 2021 to July 2022 were analyzed retrospectively. Variables including gender, age, extent of tumor resection, postoperative treatment modalities, as well as genetic expressions such as MGMT promoter methylation, TP53 mutation, CDK4/6 amplification, and NF1 mutation were scrutinized. Statistical analyses were employed to correlate these clinical features and genetic mutations with patients’ progression-free survival and overall survival. Results Male patients(65.30%) outnumbered female patients(34.70%). Gross total resection accounted for 81.60%, while subtotal resection or partial resection constituted 18.4%. Postoperatively, standard adjuvant chemoradiotherapy was predominantly administered(63.30%). Molecular pathology assessments revealed MGMT promoter methylation positivity in 55.10%, TP53 mutation in 38.78%, CDK4/6 amplification in 48.98%, and NF1 mutation in 28.57% of cases. Correlation analysis indicated that extent of resection, postoperative adjuvant chemoradiotherapy, MGMT promoter methylation, TP53 mutation, and CDK4/6 amplification were independent prognostic factors(P<0.05), while NF1 mutation showed no significant correlation with prognosis(P>0.05). Conclusions The clinical characteristics and some gene mutations of PGBM patients are closely related to prognosis. Age, extent of tumor resection, postoperative treatment modalities, as well as MGMT promoter methylation, TP53 mutation, and CDK4/6 amplification, emerge as crucial indicators for predicting prognosis in PGBM patients, while further research is warranted to elucidate the impact of NF1 mutation on prognosis. These insights contribute to refining individualized treatment strategies and prognosis assessment for PGBM patients.