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

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 sequencing 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 myelofibrosis, 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.

Automated summary

Myeloid malignancies are heterogeneous disorders characterized by defective hematopoiesis and myeloid differentiation. Next-generation sequencing panel testing allows for simultaneous screening of multiple mutations, providing clinicians with information for diagnosis, prognosis, and targeted treatment options, thus saving time and cost. This approach offers a powerful guide for clinicians in managing myeloid malignancies.