Optical genome mapping as a prognostic tool for myeloid malignancies
2022
Ruhr-University Bochum, Bochum, Germany
Cytogenetic diagnostics play a crucial role in risk stratification and classification of myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), thus influencing treatment decisions. Optical genome mapping (OGM) is a novel whole-genome method for the detection of cytogenetic abnormalities. This study assessed the applicability and practicality of OGM as a diagnostic tool in AML and MDS patients. In total, 27 patients with AML or MDS underwent routine diagnostics as well as OGM following a recently established workflow. Methods were compared regarding concordance and content of information. In 93%, OGM was concordant to classical karyotyping and a total of 61 additional variants in a predefined myeloid gene-set could be detected. In 67% of samples, the karyotype could be redefined by OGM. The method has the potential to enter routine diagnostics as a gold standard for cytogenetic diagnostics. Furthermore, OGM can serve as a tool to identify genetic regions of interest and future research regarding tumor biology.
Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients
Deepak B. Vangala
Added on: 03-10-2022
[1] https://onlinelibrary.wiley.com/doi/10.1002/ijc.33942[2] https://www.bionity.com/en/news/1174853/new-method-provides-more-precise-information-on-types-of-leukaemia.html?utm_source=newsletter&utm_medium=email&utm_campaign=bionityde&WT.mc_id=ca0264
