From Driver Mutations to Genomic Classification: Current &  Future Perspectives on Myeloproliferative Neoplasms

Jaymi Tan; Yock Ping Chow; Norziha Zainul Abidin; Abhi Veerakumarasivam; Chieh Lee Wong

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From Driver Mutations to Genomic Classification: Current & Future Perspectives on Myeloproliferative Neoplasms

Author: Jaymi Tan ¹ ; Yock Ping Chow ² ; Norziha Zainul Abidin ³ ; Abhi Veerakumarasivam ¹ ; Chieh Lee Wong ^{2
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Author Information

1. Department of Biological Sciences, School of Science and Technology, Sunway University, 47500 Petaling Jaya, Selangor Darul Ehsan, Malaysia
2. Clinical Research Centre, Sunway Medical Centre, 47500 Petaling Jaya, Selangor Darul Ehsan, Malaysia&
3. Molecular Diagnostics Laboratory, Sunway Medical Centre, 47500 Petaling Jaya, Selangor Darul Ehsan, Malaysia&
4. Haematology Unit, Department of Medicine, Sunway Medical Centre, 47500 Petaling Jaya, Selangor Darul Ehsan, Malaysia&
5. Faculty of Medicine, Imperial College London, London SW7 2AZ, United Kingdom&
6. Centre for Haematology, Hammersmith Hospital, Imperial College London, London W12 0NN, United Kingdom
Publication Type:Review
Keywords: Myeloproliferative neoplasm, Mutation, Molecular pathogenesis, Disease management
From:Malaysian Journal of Medicine and Health Sciences 2021;17(No.1):170-183
CountryMalaysia
Language:English
Abstract: Myeloproliferative neoplasms (MPNs) encompass a heterogeneous group of chronic, clonal haematopoietic stem cell neoplasms that harbor the propensity to undergo leukaemic transformation. Epidemiological data on MPNs especially pertaining to non-Caucasian populations is limited, and the molecular pathogenesis of MPN remains unclear. Although the discovery of MPN driver mutations in JAK2, MPL and CALR in the last decade has revolutionised disease management, the mutations are not specific for any MPN subtype. The management of MPNs is further challenged by substantial genetic and phenotypic heterogeneity that exist between and within MPN subtypes as well as other myeloid diseases. In this review, we focus on the classical Philadelphia chromosome (Ph)-negative MPNs – polycythaemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF); providing an overview on the current understanding of the disease at a clinical and molecular standpoint while discussing the present challenges and future opportunities in the management of MPNs.
Full text:11.2021my1005.pdf