MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA

Abstract

AIMMolecular classification of glioma is a mandatory in the diagnosis of glioma according to the WHO 2016 classification of tumors of the central nervous system. However, WHO does not indicate the molecular methodology to be integrated, and the versatility and cost-effectiveness of molecular diagnosis is a concern. In this study, we evaluate the feasibility of a glioma specific tailored NGS panel where driver gene mutation and 1p/19q codeletion can be analyzed in a single platform.MATERIALS AND METHODSWe developed a glioma specific tailored NGS panel consisting of 48 key driver genes including IDH1/2, TP53, PTEN, EGFR, PDGFR, NF1, RB1, CDKN2A, and the TERT promoter. DNA was extracted from FFPE tumor tissues histologically identified by a pathologist, and from patient derived blood to serve as a control. In this system, gene mutations and copy number alterations can be precisely characterized, thus 1p/19q co-deletion can also be evaluated. We have analyzed 106 glioma patients (Grade II: 19 cases, Grade III: 23 cases, Grade IV: 64 cases) using this system.RESULTSFrom these 106 cases, IDH1 and TERT promoter mutations were detected in 33 cases (28%) and 55 cases (52%), respectively. 1p/19q co-deletion was detected in 19 cases (18%), with IDH1 mutations in all cases. In 57 Grade IV cases, TP53, PTEN, RB1, NF1, PDGFRA mutations were detected in 25 cases (43%), 24 cases (41%), 10 cases (17%), 8 cases (14%) and 6 cases (10%). Although EGFR mutation frequency was low (3%), amplification was detected in 14 cases (24%). As for deletion, PTEN and CDKN2A loci were deleted in 36 cases (62%) and 30 cases (52%), respectively. To note, MET alterations were detected in 2 cases. The cases in which histopathological diagnosis is difficult to make have a tendency to show atypical genetic alterations.CONCLUSIONDiagnosis of glioma patients with this glioma-specific tailored NGS panel is feasible.