잠시만 기다려 주세요. 로딩중입니다.

Prevalence of JAK2 V617F, CALR, and MPL W515L Gene Mutations in Patients with Essential Thrombocythemia in Kurdistan Region of Iraq

대한임상검사과학회지 2021년 53권 1호 p.41 ~ 48
Saeed Bestoon Muhammad, Getta Hisham Arif, 김은정, Abdulqader Goran, Abdulqader Aveen M. Raouf, Mohammed Ali Ibrahim,
소속 상세정보
 ( Saeed Bestoon Muhammad ) - Hiwa Hemato-Oncology Center Department of Hematology
 ( Getta Hisham Arif ) - University of Sulaymaniyah College of Medicine Department of Pathology
김은정 ( Kim Eun-Jung ) - Hiwa Hemato-Oncology Center Department of Hematology
 ( Abdulqader Goran ) - University of Sulaymaniyah College of Medicine Department of Pathology
 ( Abdulqader Aveen M. Raouf ) - University of Sulaymaniyah College of Medicine Department of Pathology
 ( Mohammed Ali Ibrahim ) - University of Sulaymaniyah College of Medicine Department of Pathology

Abstract


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.

키워드

Essential polycythemia; JAK2 V617F; MPL; W515L; CALR mutation; Iraqi Kurds

원문 및 링크아웃 정보

등재저널 정보