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Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.
Sahajpal, Nikhil Shri; Mondal, Ashis K; Singh, Harmanpreet; Vashisht, Ashutosh; Ananth, Sudha; Saul, Daniel; Hastie, Alex R; Hilton, Benjamin; DuPont, Barbara R; Savage, Natasha M; Kota, Vamsi; Chaubey, Alka; Cortes, Jorge E; Kolhe, Ravindra.
Afiliação
  • Sahajpal NS; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Mondal AK; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Singh H; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Vashisht A; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Ananth S; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Saul D; Bionano Genomics Inc., San Diego, CA 92121, USA.
  • Hastie AR; Bionano Genomics Inc., San Diego, CA 92121, USA.
  • Hilton B; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • DuPont BR; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Savage NM; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Kota V; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Chaubey A; Bionano Genomics Inc., San Diego, CA 92121, USA.
  • Cortes JE; Department of Medicine, Georgia Cancer Center, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Cancers (Basel) ; 15(12)2023 Jun 16.
Article em En | MEDLINE | ID: mdl-37370824
ABSTRACT
The standard-of-care (SOC) for genomic testing of myeloid cancers primarily relies on karyotyping/fluorescent in situ hybridization (FISH) (cytogenetic analysis) and targeted gene panels (usually ≤54 genes) that harbor hotspot pathogenic variants (molecular genetic analysis). Despite this combinatorial approach, ~50% of myeloid cancer genomes remain cytogenetically normal, and the limited sequencing variant profiles obtained from targeted panels are unable to resolve the molecular etiology of many myeloid tumors. In this study, we evaluated the performance and clinical utility of combinatorial use of optical genome mapping (OGM) and a 523-gene next-generation sequencing (NGS) panel for comprehensive genomic profiling of 30 myeloid tumors and compared it to SOC cytogenetic methods (karyotyping and FISH) and a 54-gene NGS panel. OGM and the 523-gene NGS panel had an analytical concordance of 100% with karyotyping, FISH, and the 54-gene panel, respectively. Importantly, the IPSS-R cytogenetic risk group changed from very good/good to very poor in 22% of MDS (2/9) cases based on comprehensive profiling (karyotyping, FISH, and 54-gene panel vs. OGM and 523-gene panel), while additionally identifying six compound heterozygous events of potential clinical relevance in six cases (6/30, 20%). This cost-effective approach of using OGM and a 523-gene NGS panel for comprehensive genomic profiling of myeloid cancers demonstrated increased yield of actionable targets that can potentially result in improved clinical outcomes.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article