Prevalence of JAK2 V617F, CALR, and MPL W515L Gene Mutations in Patients with Essential Thrombocythemia in Kurdistan Region of Iraq
Essential thrombocythemia (ET) is a clonal bone marrow stem cell disorder, primarily involving the megakaryocytic lineage. The WHO 2016 guidelines include the molecular detection of JAK2, MPL, and CALR mutations as a major diagnostic criterion for ET. This study aimed to determine the frequency o...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
The Korean Society for Clinical Laboratory Science
2021-03-01
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Series: | Korean Journal of Clinical Laboratory Science |
Subjects: |
Summary: | Essential thrombocythemia (ET) is a clonal bone marrow stem cell disorder, primarily involving the
megakaryocytic lineage. The WHO 2016 guidelines include the molecular detection of JAK2, MPL,
and CALR mutations as a major diagnostic criterion for ET. This study aimed to determine the
frequency of JAK2 V617F, MPL W515L, and CALR mutations in Iraqi Kurdish patients afflicted with
ET, and to analyze their clinical and hematological features. A total of 73 Iraqi Kurdish patients with ET
were enrolled as subjects, and analysis was achieved utilizing real-time PCR. The frequency of JAK2
V617F, CALR, and MPL W515L mutations was determined to be 50.7%, 22%, and 16.4%,
respectively. No statistically significant difference was obtained when considering the age and
gender among different genotypes. The JAK2 V617F mutated patients had significantly higher white
blood cell counts and hemoglobin levels than the CALR-positive patients (P-value=0.000, 0.007,
respectively), MPL W515L-positive patients (P-value=0.000, 0.000, respectively), and triple
negative patients (P-value=0.000, 0.000, respectively). Also, the JAK2 V617F mutated patients
showed higher platelet count as compared to the MPL W515L-positive patients (P-value=0.02) and
triple negative patients (P-value=0.04). Furthermore, significantly lower white blood cell count and
hemoglobin levels were associated with CALR positivity (P-value=0.000, 0.01, respectively), MPL
W515L-positivity (P-value=0.001, 0.000, respectively), and triple negativity (P-value=0.000, 0.000,
respectively), as compared to patients with combined mutations. In conclusion, apart from a
relatively high frequency of MPL W515L mutation, our data is comparable to earlier reports, and
highlights the importance of genotyping the JAK2 V617F, MPL W515L, and CALR mutations for
accurate diagnosis of patients with ET. |
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ISSN: | 1738-3544 2288-1662 |