Next-generation sequencing (NGS)-based technologies are  novel methodologies for the diagnosis, prognostic assessment and decision of individualized treatment strategy in hematological neoplasia. NGS led to a more comprehensive understanding of the mutational landscape, especially in the myeloid neoplasms. Herein, we present the results of the patients who underwent NGS with the suspicion of myeloid neoplasia.

Retrospective data from a total of 13 patients were analyzed who were diagnosed between 01.10.2018 and 01.06.2021. There were four myeloid panels in the NGS. Panel 1 consists of ASXL1, CALR, CBL, CEBPA, CSF3R, and DNMT3A mutations. Panel 2 consists of EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, and MPL mutations. Panel 3 consists of NPM1, NRAS, RUNX1, SETBP1, and SF3B1 mutations. Panel 4 consists of SH2B3/LNK, SRSF2, TET2, TP53, U2AF1, ZRSR2 mutations.

Median age was 48. Diagnoses were AML (n=7), AA (n=1), MDS (n=2), DLBCL (n=1), MM (n=1), and Evans syndrome (n=1). Seven cases with malignant diagnoses were eligible for intensive therapy. There were no mutations detected by NGS in MM, AA, DLBCL, and Evans syndrome cases. Biallelic CEBPA mutation accompanied FLT3 mutation in 1 case. IDH1 and NPM mutation were detected in 1 APL case. MPL, SRSF2, ASXL1, CBL, U2AF1, SF2B1, and TET2 were mutations detected in cases with dysplasia.

In our cohort, NGS did not add any significant information in the lymphoid malignancies and benign hematological cases. NGS helped to define the allelic ratio of FLT3+ mutations and helped to accurately define the ELN risk of AML. Mutations that were detected in the cases with dysplastic bone marrow findings were concordant that were reported in the literature. Larger case series are needed in order to define the therapeutic and prognostic implications.