Reliability of Cell-Free DNA (cfDNA) Next Generation Sequencing in Predicting Chromosomal Structural Abnormalities and Cytogenetic-Risk Stratification of Patients with Myeloid Neoplasms

Introduction: Cytogenetic analysis is important for stratifying patients with various myeloid neoplasms. It has been reported that whole-genome sequencing can be used as an alternative to cytogenetic analysis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). With the increasing use of liquid biopsy in the diagnosis and monitoring of patients with various types of neoplasms, we explored the potential of using liquid biopsy and next generation sequencing (NGS) in detecting chromosomal structural abnormalities or copy number variation (CNV) in patients with myeloid neoplasms. For practical approach and for capturing single nucleotide variants (SNV) and to achieve enough depth in sequencing, we used targeted sequencing for determining the chromosomal structural abnormalities in cell-free DNA (cfDNA) in patients with myeloid neoplasms.