Hematological malignancies are characterized by multiple classes of chromosomal aberrations. Comprehensive detection of these aberrations is vital to properly classify samples and provide actionable information. Due to the limitations of current cytogenetic approaches, only a fraction of the samples evaluated lead to a positive aberration finding11-13. Optical genome mapping (OGM) significantly improves detection to unlock truly comprehensive chromosomal aberration profiles and maximize the number of informed cases.
Multiple peer-reviewed studies from global experts have demonstrated the same outcomes: OGM has a high correlation to results from traditional methods across diverse types of hematological malignancies, while consistently revealing additional pathogenic findings.
When compared to traditional cytogenetic methods, OGM can uncover up to twice as many pathogenic chromosomal aberrations.
In a 2022 MD Anderson Cancer Center study, OGM detected twice the number of clinically significant chromosomal aberrations as karyotyping in 101 myelodysplastic samples.8 This figure illustrates the Circos plot view of the variants identified by karyotyping (left) versus OGM (right).
High-resolution and enhanced characterization of samples by OGM also leads to better risk analysis and stratification of samples.
| Disease | Impact of OGM Analysis |
| AML and MDS9 | For 67% of cases, the karyotype was redefined. In some cases, this led to an adjustment in ELN risk classifications |
| AML and MDS10 | 11% of samples for which OGM findings led to change in R-IPSS or 2010/2017 ELN score |
| MDS8 | 17% of cases assessed with OGM had the IPSS-R risk reclassified from initial karyotyping |
Sign up to watch the AMP 2022 Bionano Corporate Workshop #1, which discusses Maximizing Detection of Pathogenic Structural Variants Across Hematological Malignancies with Optical Genome Mapping.
Watch VideosSign up to watch this webinar and hear from Bionano’s Dr. Alka Chaubey and Dr. Adam Smith, UHN, as they discuss how Optical Genome Mapping Meets Challenges for New Blood Cancer Classifications
Watch On-demandSign up to watch this webinar and hear how OGM makes a huge impact on clinical research, as Dr. Rashmi Kanagal-Shamanna and Dr. Guillermo Garcia-Manero (MD Anderson Cancer Center) discuss OGM for Enhanced Characterization of Myelodysplastic Syndromes.
Watch On-demand
| title | SOURCE | Authors |
|---|---|---|
| Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant | February 13, 2023 | Janine Reurink, Erik de Vrieze, Catherina H Z Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D N Astuti, Jordi Corominas Galbany, Janneke J C van Lith-Verhoeven, Charlotte W Ockeloen, Lonneke Haer-Wigman, Carel B Hoyng, Frans P M Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk |
| The snapdragon genomes reveal the evolutionary dynamics of the S locus supergene | October 10, 2022 | Sihui Zhu, Yu’e Zhang, Lucy Copsey, Dongfeng Zheng, Enrico Coen, Yongbiao Xue, Qianqian Han |
| Molecular and genetic mechanisms conferring dissolution of dioecy in Diospyros oleifera Cheng | October 9, 2022 | Peng Sun Jr., Soichiro Nishiyama Jr., Huawei Li Jr., Yini Mai Jr., Weijuan Han Jr., Yujing Suo Jr., Chengzhi Liang Sr., Huilong Du Jr., Songfeng Diao Jr., Yiru Wang Jr., Jiaying Yuan Jr., Yue Zhang Jr., Ryutaro Tao Sr., Fangdong Li Sr., Jianmin Fu Sr. |
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