Kahraman Cigdem Yuce, Sincan Gulden, Tatar Abdulgani
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 Jun;54(2):181-185. doi: 10.5152/eurasianjmed.2022.21102.
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.
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.
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.
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.
髓系恶性肿瘤是由于造血干细胞/祖细胞的造血功能缺陷和髓系分化异常导致的异质性疾病。这些疾病的分子图谱复杂。分子改变用于疾病分类、预后评估及治疗。我们旨在评估新一代测序panel检测在髓系恶性肿瘤中的优势及临床结果。
我们评估了54例接受新一代测序髓系panel检测患者的结果，同时结合荧光原位杂交（FISH）、聚合酶链反应结果及临床结果。该panel中的靶基因包括ASXL1、CALR、CBL、CEBPA、CSF3R、DNMT3A、EZH2、FLT3、IDH1、IDH2、JAK2、KIT、KRAS、MPL、NPM1、NRAS、RUNX1、SETBP1、SF3B1、SH2B3、SRSF2、TET2、TP53、U2AF1和ZRSR2。
诊断包括急性髓系白血病、原发性血小板增多症、真性红细胞增多症、原发性骨髓纤维化、高嗜酸性粒细胞综合征（HES）、慢性髓系白血病、骨髓增生异常综合征、慢性粒单核细胞白血病。检测到28个错义突变、8个移码突变、5个无义突变和3个框内突变。在1例因聚合酶链反应局限性而出现假阴性结果的患者中，通过新一代测序检测到JAK-2双突变。
同时筛查多个突变既省时又经济高效。通过该panel检测，一次检测就有可能确定诊断、预后及靶向治疗方案。新一代测序髓系panel检测可能是临床医生的有力指导。
