The importance of targeted next-generation sequencing usage in cytogenetically normal myeloid malignancies

In this study, we analyzed 100 patients who admitted to Medical Genetics Laboratory within different type of myeloid malignancies. We highlighted the possible diagnostic algorithm for cytogenetically normal cases. We applied NGS 141 gene panel for cytogenetically normal patients and we detected two or more pathogenic variations in 61 out of 100 patients (61%). The pathogenic variation detection rate of NGS varies in disease groups: AML were 85% and MDS were 23%. Here, we identified 24 novel variation out of total pathogenic variations in myeloid malignancies. A total 18 novel variation were identified in AML and 6 novel variation were identified in MDS. Despite of long turnaround time, conventional techniques are still golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot be identified easily by conventional techniques. In these conditions, advanced technologies like NGS are highly recommended.

Source: Mediterranean Journal of Hematology and Infectious Diseases - December 31, 2020 Category: Hematology Authors: Emine Atli, Hakan Gurkan, Engin Atli, Hakki Onur Kirkizlar, Sinem Yalcintepe, Selma Demir, Ufuk Demirci, Damla Eker, Cisem Mail, Rasime Kalkan, Ahmet Muzaffer Demir Source Type: research