IDH1105GGT single nucleotide polymorphism improves progression free survival in patients with IDH mutated grade II and III gliomas

被引：7

作者：

Franceschi, Enrico ^{[1
]}

De Biase, Dario ^{[2
]}

Di Nunno, Vincenzo ^{[1
]}

Pession, Annalisa ^{[2
]}

Tosoni, Alicia ^{[1
]}

Gatto, Lidia ^{[1
]}

Lodi, Raffaele ^{[3
]}

Tallini, Giovanni ^{[4
]}

Visani, Michela ^{[4
]}

Bartolini, Stefania ^{[1
]}

Brandes, Alba Ariela ^{[1
]}

机构：

[1] AUSL Bologna, Dept Oncol, Via Altura 3, I-40139 Bologna, Italy

[2] Univ Bologna, Mol Diagnost Unit, Azienda USL Bologna, Dept Pharm & Biotechnol FaBiT, Bologna, Italy

[3] IRCCS Ist Sci Neurol Bologna, Bologna, Italy

[4] Univ Bologna, Azienda USL Bologna, Sch Med,Mol Diagnost Unit, Dept Med,Dipartimento Med Specialist Diagnost & S, Bologna, Italy

来源：

PATHOLOGY RESEARCH AND PRACTICE | 2021年 / 221卷

关键词：

IDH; 1; 2; SNP; Gliomas; Prognosis; RS11554137; MUTATIONS; CLASSIFICATION; TUMORS; ATRX; GENE;

D O I：

10.1016/j.prp.2021.153445

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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 105GGT. Patients with SNP 105GGT had a longer Progression Free Survival (PFS - 47.3 months vs Not reached; p = 0.015). The SNP 105GGT (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 SNP105GGT had longer PFS regardless adjuvant treatment received and extension of primary surgery. A validation is warranted to confirm our preliminary results.

引用

页数：6

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