The Eurasian Journal of Medicine
Original Article

Next-Generation Sequencing Panel Test in Myeloid Neoplasms and Evaluation with the Clinical Results


Department of Medical Genetics, Atatürk University Faculty of Medicine, Erzurum, Turkey


Department of Haematology, Atatürk University Faculty of Medicine, Erzurum, Turkey

Eurasian J Med 2022; 54: 181-185
DOI: 10.5152/eurasianjmed.2022.21102
Read: 590 Downloads: 144 Published: 01 June 2022

Objective: Myeloid malignancies are heterogeneous disorders due to defective hematopoiesis and myeloid differentiation of hematopoietic stem/progenitor cell. The molecular landscape of the diseases is complex. Molecular alterations are used for classification and evaluation of prognosis and treatment. We aimed to evaluate the advantages of the next-generation sequencing panel testing in myeloid malignancies and clinical outcomes.

Materials and Methods: We evaluated the results of 54 patients who underwent next-generation sequenc- ing myeloid panel testing, with fluorescent in situ hybridization (FISH), polymerase chain reaction results and the clinical outcomes. Target genes in the panel were ASXL1, CALR, CBL, CEBPA, CSF3R, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, TET2, TP53, U2AF1, and ZRSR2.

Results: Diagnoses were acute myeloid leukemia, essential thrombocytosis, polistemia vera, primary myelo- fibrosis, hypereosinophilic syndrome (HES), chronic myeloid leukemia, myelodysplastic syndromes, chronic myelomonocytic leukemia. Twenty-eight missense, 8 frameshift, 5 stop gain, and 3 in-frame mutations were detected. A double mutation was detected in JAK-2 with next-generation sequencing in the patient who was given a false negative result due to polymerase chain reaction limitation.

Conclusion: Screening multiple mutations simultaneously, is time and cost-effective. With the panel test, it is possible to determine the diagnosis, prognosis and targeted treatment options with a single test. Next- generation sequencing myeloid panel tests might be a powerful guide for clinicians.

Cite this article as: Yuce Kahraman C, Sincan G, Tatar A. Next-generation sequencing panel test in myeloid neoplasms and evaluation with the clinical results. Eurasian J Med 2022;54(2):181-185.

EISSN 1308-8742