Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients.

Autor: Gerding WM; Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany., Tembrink M; Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany., Nilius-Eliliwi V; Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany.; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Mika T; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Dimopoulos F; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Ladigan-Badura S; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Eckhardt M; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Pohl M; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Wünnenberg M; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Farshi P; Department of Hematology and Oncology, Kliniken Essen-Mitte, Essen, Germany., Reimer P; Department of Hematology and Oncology, Kliniken Essen-Mitte, Essen, Germany., Schroers R; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Nguyen HP; Department for Human Genetics, Ruhr-University Bochum, Bochum, Germany., Vangala DB; Department of Medicine, Hematology and Oncology, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Jazyk: angličtina
Zdroj: International journal of cancer [Int J Cancer] 2022 Jun 15; Vol. 150 (12), pp. 1998-2011. Date of Electronic Publication: 2022 Feb 07.
DOI: 10.1002/ijc.33942
Abstrakt: 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. Our study assessed the applicability and practicality of OGM as diagnostic tool in AML and MDS patients. In total, 27 patients with AML or MDS underwent routine diagnostics including classical karyotyping and fluorescence in situ hybridization (FISH) or real-time PCR analysis wherever indicated 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. OGM offers a whole genome approach to cytogenetic diagnostics in AML and MDS with a high concordance to classical cytogenetics. The method has the potential to enter routine diagnostics as a gold standard for cytogenetic diagnostics widely superseding FISH. Furthermore, OGM can serve as a tool to identify genetic regions of interest and future research regarding tumor biology.
(© 2022 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)
Databáze: MEDLINE
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