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Clinical and laboratory features of jak2 v617f, calr, and mpl mutations in Malaysian patients with classical myeloproliferative neoplasm (Mpn)
Zulkeflee, Razan Hayati Zulkafli, Zefarina Johan, Muhammad Farid Husin, Azlan Hassan, Rosline
Zulkeflee, Razan Hayati
Zulkafli, Zefarina
Johan, Muhammad Farid
Husin, Azlan
Hassan, Rosline
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2021-07-16
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Abstract
Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloprolifera-tive neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations.
Citation
Zulkeflee, R.H.; Zulkafli, Z.; Johan, M.F.; Husin, A.; Islam, M.A.; Hassan, R. Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN). Int. J. Environ. Res. Public Health 2021, 18, 7582. https://doi.org/10.3390/ijerph18147582
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Research Unit
PubMed ID
34300032 (pubmed)
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Journal article
Language
en
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© 2021 The Authors. Published by MDPI. This is an open access article available under a Creative Commons licence.
The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.3390/ijerph18147582
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1660-4601
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This research were funded by Universiti Sains Malaysia Postgraduate Publication Grant 1001/PPSP/8070011 and Research University Individual grant 1001/PPSK/8012213.
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Licence for published version: Creative Commons Attribution 4.0 International