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

Aliaa Arina Rosli, Adam Azlan, Yaashini Rajasegaran, Yee Yik Mot, Olaf Heidenreich, Narazah Mohd Yusoff, Emmanuel Jairaj Moses

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
JournalClinical and Experimental Medicine
DOIs
Publication statusAccepted/In press - 2022

Keywords

  • Acute myeloid leukemia
  • Cancer genetics, next-generation sequencing (NGS)
  • Cytogenetics
  • Molecular diagnostics

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