![]() ![]() Therefore, there has been growing interest in alternative and less invasive methods to determine chromosomal variations for patients with hematologic neoplasms. However, cytogenetic analysis has considerable limitations as these studies are more costly, require fresh viable cells for culturing, need to be manually performed by an expert, and have a turnaround time of approximately two weeks for results ( 6). For example, the European LeukemiaNet (ELN) recommendations for diagnosis and management of acute myeloid leukemia (AML) state conventional cytogenetic analysis remains mandatory in the evaluation of suspected AML, and these guidelines provide risk stratification recommendations based on the results of cytogenetic studies ( 5). Cytogenetic studies are recommended for a majority of myeloid or lymphoid neoplasms and are integrated into the clinical care of patients with these diseases ( 3, 4). Overall, this study supports the use of liquid biopsy for early diagnosis and monitoring of patients with myeloid neoplasms.Ĭhromosomal variations play a major role in the diagnosis, prognosis, and selection of therapy in hematologic neoplasms ( 1, 2). In specific circumstances, targeted NGS may be reliable and efficient to provide adequate information without the need for BM biopsy considering broad mutation profiling can be obtained through adequate sequencing within the same test. When cytogenetic abnormalities were classified according to prognostic classes, there was a complete (100%) concordance between cfDNA NGS data and cytogenetic data.Ĭonclusions: This data shows that liquid biopsy using targeted NGS is reliable in detecting chromosomal structural abnormalities in myeloid neoplasms. Upon comparison of the myeloid samples with 89 BM patients, NGS testing was able to reliably detect chromosomal gain or loss, except for fusion abnormalities. Chromosomal structural abnormalities in cfDNA were detected in 146 (16%) myeloid samples and 76 (12%) lymphoid samples. Of these 1539 samples, 906 (59%) showed abnormalities associated with myeloid neoplasms and 633 (41%) with lymphoid neoplasms. Results: Of the 2821 samples, 1539 (54.5%) showed evidence of mutations consistent with the presence of neoplastic clones in circulation. Cytogenetic data from corresponding bone marrow (BM) samples was available on 89 myeloid samples. CNVkit software was used for analyzing and visualizing CNVs. ![]() ![]() cfDNA was sequenced using a 275 gene panel. Methods: Plasma cell-free DNA (cfDNA) from 2821 myeloid or lymphoid neoplasm patients were collected. We explored the use of targeted next generation sequencing (NGS) in detecting chromosomal structural abnormalities or copy number variations (CNVs) in patients with myeloid neoplasms. Introduction: Cytogenetic analysis is important for stratifying patients with various neoplasms. 6Genomic Testing Cooperative, Hematology, Irvine, CA, United States.5Englewood Health Internal Medicine Residency Program, Englewood, NJ, United States.4Ernest Mario School of Pharmacy at Rutgers University, Department of Pharmacy Practice and Administration, Piscataway, NJ, United States. ![]() 3Hackensack Meridian School of Medicine, Oncology, Nutley, NJ, United States.2John Theurer Cancer Center, Hackensack University Medical Center, Hackensack, NJ, United States.1Hackensack University Medical Center, Oncology, Hackensack, NJ, United States.Andrew Ip 1,2,3 Alexandra Della Pia 1,4 Gee Youn (Geeny) Kim 1,4 Jason Lofters 5 James Behrmann 3 Dylon Patel 3 Simone Kats 4 Jeffrey Justin Estella 6 Ivan De Dios 6 Wanlong Ma 6 Andrew L. ![]()
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