Abstract 5294: Clinical utility of a multigene panel for hematologic malignancies

2020 
Molecular profiling helps to diagnose, classify and guide the treatment of hematologic neoplasms. Thus NGS is the most powerful diagnostics tool to serve clinical management needs. In this study, we analyzed a multi-gene panel for genes associated with diagnostic, prognostic and therapeutic utilities for hematologic neoplasms. A total of 37 samples of myeloid and lenfoid were analyzed in GeneReader NGS system through a targeted multi-gene panel consisting of ASXL1, CALR, CBL, CEBPA, CSF3R, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, TET2, TP53, U2AF1, ZRSR2. QCI-Analyze and QCI-Interpret were used for bioinformatic analyses. Each sample generated 2.176.058 million reads on average, and minimum of 99.5 % mapped reads to the reference reads. Total of 38 reportable variants of 16 genes were detected in 21 patients. The positivity rate was 70.5% (12 of 17) in myeloid group while its 90% (9 of 10 patients) in lymphoid group.In conclusion, our study shows the high sensitivity and specificity of the NGS technology that facilitates the identification of actionable genetic alterations on multiple genes simultaneously to avoid time-consuming multi-step procedures in hematologic malignancies. Citation Format: Sevcan Tug Bozdogan, Cagla Rencuzogullari, Cem Mujde, Atil Bisgin. Clinical utility of a multigene panel for hematologic malignancies [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 5294.
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