Publication: Clinical characteristics and its association with driver gene mutations (JAK2 V617F, CALR, AND MPL) in myeloproliferative neoplasms
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Date
2022
Authors
Zulkeflee, Razan Hayati
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Abstract
Background: Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasms (MPNs). 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 MPNs. Methods: Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian MPNs patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF), and the demographics including clinical and laboratory data of the patients were retrieved. Results: 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. Serum LDH showed higher in mutated CALR 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. Conclusion: 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.
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