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Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications

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Abstract

Chromosomal abnormalities in acute myeloid leukemia (AML) have significantly contributed to scientific understanding of its molecular pathogenesis, which has aided in the development of therapeutic strategies and enhanced management of AML patients. The diagnosis, prognosis and treatment of AML have also rapidly transformed in recent years, improving initial response to treatment, remission rates, risk stratification and overall survival. Hundreds of rare chromosomal abnormalities in AML have been discovered thus far using chromosomal analysis and next-generation sequencing. As a result, the World Health Organization (WHO) has categorized AML into subgroups based on genetic, genomic and molecular characteristics, to complement the existing French-American classification which is solely based on morphology. In this review, we aim to highlight the most clinically relevant chromosomal aberrations in AML together with the technologies employed to detect these aberrations in laboratory settings.

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Funding

Studies related to this topic were funded and supported by Fundamental Research Grant Scheme (FRGS): FRGS/1/2018/SKK08/USM/02/8 from Ministry of Higher Education (MOHE), Malaysia, and Universiti Sains Malaysia Research Grant, USM–RUI: 1001/CIPPT/8012265.

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  1. Department of Biomedical Science, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, 13200, Kepala Batas, Pulau Pinang, Malaysia

    Aliaa Arina Rosli, Adam Azlan, Yaashini Rajasegaran & Emmanuel Jairaj Moses

  2. Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, 13200, Kepala Batas, Pulau Pinang, Malaysia

    Yee Yik Mot & Narazah Mohd Yusoff

  3. Prinses Máxima Centrum Voor Kinderoncologie, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands

    Olaf Heidenreich

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E.J.M., A.A.R, A.A. conceptualized the study; E.J.M., M.Y.Y, Y.R, A.A.R and A.A wrote the original draft. E.J.M., M.Y.Y., A.A. and A.A.R. helped in writing—review and editing; E.J.M., O.H. and N.M.Y supervised the study. All authors have read and agreed to the published version of the manuscript.

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Rosli, A.A., Azlan, A., Rajasegaran, Y. et al. Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications. Clin Exp Med 23, 1137–1159 (2023). https://doi.org/10.1007/s10238-022-00913-1

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