Relationship of JAK2 (V617F) Allelic Burden with Clinico- Haematological Manifestations of Philadelphia-Negative Myeloproliferative Neoplasms

Ka Shing Yow; Xin Liu; Chean Nee Chai; Moon Ley Tung; Benedict Yan; Dheepa Christopher; Kiat Hoe Ong; Melissa G Ooi

doi:10.31557/APJCP.2020.21.9.2805

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Relationship of JAK2 (V617F) Allelic Burden with Clinico- Haematological Manifestations of Philadelphia-Negative Myeloproliferative Neoplasms

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Relationship of JAK2 (V617F) Allelic Burden with Clinico- Haematological Manifestations of Philadelphia-Negative Myeloproliferative Neoplasms

Ka Shing Yow, Xin Liu, Chean Nee Chai, Moon Ley Tung, Benedict Yan, Dheepa Christopher, Kiat Hoe Ong and Melissa G Ooi

Asian Pacific journal of cancer prevention : APJCP, Vol.21(9), pp.2805-2810

09/01/2020

DOI: 10.31557/APJCP.2020.21.9.2805

PMCID: PMC7779444

PMID: 32986384

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Abstract

JAK2 (V617F) allelic burden is the main genetic driver behind and a potential differentiator between individual myeloproliferative neoplasm (MPN) subtypes. This study aimed to explore the relationship between JAK2 (V617F) allelic burden, MPN subtypes and their clinico-haematological manifestations in a Singapore-based cohort. Analysis was performed on a retrospectively collected dataset of 128 patients diagnosed with JAK2 (V617F) positive Philadelphia-negative MPNs between 2016 to 2017 in Singapore. Genomic analysis was conducted on blood samples via DNA extraction and Droplet Digital Polymerase Chain Reaction (ddPCR). The mean age was 62.4 (SD=14.1). 85 out of the 128 (66.4%) patients were male. There was a statistically significant difference in allelic burdens between the different MPN disease subtypes χ2(3) = 9.064, p=0.028, with essential thrombocytosis (ET) patients having the lowest mean JAK2 percentage allelic burden (26.5%). Patients with an allelic burden >50% had higher leukocyte counts (MWU 1016.5, p=0.001), haemoglobin levels (MWU 1287.0, p=0.045), lactate dehydrogenase levels (MWU 611.5, p=0.001), and lower platelet levels (MWU 1164.0, p=0.008). Subgroup analysis revealed none of these correlations was significant in the ET subgroup. The results are largely in concordance with previous research in Asian cohorts demonstrating the association between allelic burden and clinico-haematological manifestations of MPN. However, in the ET subgroup, the JAK2 (V617F) allelic burden do not correlate positively for haematological parameters which is only seen in Asian patients. .

JAK2

allelic burden

myeloproliferative disease

Details

Title: Subtitle: Relationship of JAK2 (V617F) Allelic Burden with Clinico- Haematological Manifestations of Philadelphia-Negative Myeloproliferative Neoplasms
Creators: Ka Shing Yow - National University of Singapore
Xin Liu - National University Hospital
Chean Nee Chai - National University Hospital
Moon Ley Tung - National University of Singapore
Benedict Yan - National University Hospital
Dheepa Christopher - Tan Tock Seng Hospital
Kiat Hoe Ong - Tan Tock Seng Hospital
Melissa G Ooi - National University of Singapore
Resource Type: Journal article
Publication Details: Asian Pacific journal of cancer prevention : APJCP, Vol.21(9), pp.2805-2810
DOI: 10.31557/APJCP.2020.21.9.2805
PMID: 32986384
PMCID: PMC7779444
NLM abbreviation: Asian Pac J Cancer Prev
ISSN: 1513-7368
eISSN: 2476-762X
Language: English
Date published: 09/01/2020
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984353801502771

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