IDH1 单核苷酸多态性可改善 IDH 突变型 II 级和 III 级胶质瘤患者的无进展生存期。
IDH1 single nucleotide polymorphism improves progression free survival in patients with IDH mutated grade II and III gliomas.
机构信息
Department of Oncology, AUSL Bologna, Bologna, Italy.
Department of Pharmacy and Biotechnology (FaBiT) - Molecular Diagnostic Unit, Azienda USL di Bologna, University of Bologna, Bologna, Italy.
出版信息
Pathol Res Pract. 2021 May;221:153445. doi: 10.1016/j.prp.2021.153445. Epub 2021 Apr 19.
BACKGROUND
A synonymous single nucleotide polymorphism (SNP) is a substitution of a single base that does not modify the primary amino acid sequence but could influence protein function. In patients with brain tumors, the incidence of the silent SNP IDH 1 105GGT (rs11554137) is three times higher than the normal population.
METHODS
Our aim was to investigate the prognostic role of the IDH 1 105GGT SNP. We selected only patients with diagnosis of IDH grade II or III mutated glioma. Additional inclusion criteria were: complete clinical data and adequate tumor samples for IDH 1 or 2 sequencing.
RESULTS
71 patients with grade II and III IDH-mutated glioma have been evaluated. Nine of 71 patients (12.7 %) presented the SNP . Patients with SNP had a longer Progression Free Survival (PFS - 47.3 months vs Not reached; p = 0.015). The SNP (HR 0.240; 95 %CI 0.074-0.784, p = 0.018) was confirmed as an independent prognostic factors in multivariate analysis.
CONCLUSIONS
Patients with IDH1 or 2 mutated grade II and III glioma presenting the SNP had longer PFS regardless adjuvant treatment received and extension of primary surgery. A validation is warranted to confirm our preliminary results.
背景
同义单核苷酸多态性（SNP）是指单个碱基的替换，不会改变主要氨基酸序列，但可能会影响蛋白质功能。在脑肿瘤患者中，沉默 SNP IDH 1 105GGT（rs11554137）的发生率比正常人群高三倍。
方法
我们旨在研究 IDH 1 105GGT SNP 的预后作用。我们仅选择 IDH 级 II 或 III 突变型胶质瘤的患者进行研究。其他纳入标准为：具有完整的临床数据和足够的 IDH 1 或 2 测序肿瘤样本。
结果
评估了 71 名 IDH 级 II 和 III 突变型胶质瘤患者。71 名患者中有 9 名（12.7%）存在 SNP。存在 SNP 的患者无进展生存期（PFS-47.3 个月 vs 未达到；p=0.015）更长。SNP（HR 0.240；95%CI 0.074-0.784，p=0.018）在多变量分析中被确认为独立的预后因素。
结论
无论接受何种辅助治疗和原发性手术的扩展，携带 IDH1 或 2 突变的 II 级和 III 级胶质瘤患者存在 SNP 时，其无进展生存期更长。需要进一步验证来确认我们的初步结果。
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