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Leung et al. J Transl Genet Genom 2023;7:79-86 https://dx.doi.org/10.20517/jtgg.2023.09 Page 67

Leung et al. J Transl Genet Genom 2023;7:79-86 Journal of Translational
DOI: 10.20517/jtgg.2023.09
Genetics and Genomics

Review Open Access

Genomics in leukaemia in clinical practice: past,
present and the future

1
Ho Ching Leung , Anskar Y. H. Leung 2
1
LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
2
Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
Correspondence to: Prof. Anskar Y. H. Leung, Department of Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The
University of Hong Kong, Room K418, K Block, Hong Kong. E-mail: ayhleung@hku.hk
How to cite this article: Leung HC, Leung AYH. Genomics in leukaemia in clinical practice: past, present and the future. J Transl
Genet Genom 2023;7:79-86. https://dx.doi.org/10.20517/jtgg.2023.09
Received: 17 Feb 2023 First Decision: 4 Apr 2023 Revised: 5 May 2023 Accepted: 11 May 2023 Published: 18 May 2023

Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Acute myeloid leukaemia (AML) is a heterogeneous group of diseases with diverse genetic drivers. The
conventional one-size-fits-all approach with chemotherapy and allogeneic hematopoietic stem cell transplantation
(HSCT) has reached an impasse, and only about 40% of patients can achieve long-term survival. Disease
heterogeneities have also hampered the development of effective therapy applicable to the multitude of AML
subtypes. Recent advances in cancer genetics and genomics have shed light on the genetic underpinnings of AML
and both inter-individual and intra-tumoral heterogeneities. These new pieces of knowledge have begun to impact
the management and prognostication of AML. They also provide the foundation for personalized treatment for this
group of diseases.

Keywords: Acute myeloid leukaemia, next-generation sequencing, measurable residual disease, personalized
medicine

INTRODUCTION
Advances in genome sequencing technologies in the past two decades have resulted in an unprecedented
increase in knowledge of cancer genetics and genomics. The information arising has shed important light
on the genetic underpinnings of oncogenesis and the complexity of inter-individual and intra-tumoral

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