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Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)
- Source :
- International Journal of Environmental Research and Public Health, Vol 18, Iss 7582, p 7582 (2021), International Journal of Environmental Research and Public Health, Volume 18, Issue 14
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative 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.
- Subjects :
- 0301 basic medicine
MPL
Health, Toxicology and Mutagenesis
medicine.disease_cause
Article
calreticulin
03 medical and health sciences
Exon
0302 clinical medicine
Polycythemia vera
polycythemia vera
Humans
molecular biology
Medicine
JAK2V617F
Myelofibrosis
Myeloproliferative neoplasm
Mutation
Myeloproliferative Disorders
essential thrombocythemia
biology
business.industry
Essential thrombocythemia
Malaysia
Public Health, Environmental and Occupational Health
Myeloid leukemia
Janus Kinase 2
hematologic malignancies
medicine.disease
chronic myeloproliferative neoplasm
030104 developmental biology
030220 oncology & carcinogenesis
primary myelofibrosis
Cancer research
biology.protein
Laboratories
business
Receptors, Thrombopoietin
Calreticulin
Subjects
Details
- ISSN :
- 16604601
- Volume :
- 18
- Database :
- OpenAIRE
- Journal :
- International Journal of Environmental Research and Public Health
- Accession number :
- edsair.doi.dedup.....0a49525e657f6e7a4ec2fc6888fab4a6