Apostle diagnostics8/14/2023 ![]() ![]() 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. ![]() Goy 1,2,3, Jamie Koprivnikar 1,2, James K. 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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