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골수증식종양 환자에서 MPL W515 돌연변이 빈도와 임상혈액학적 특징

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Author(s)
박성균김경보이원목하정숙류남희전동석김재룡함지연서장수김유경
Keimyung Author(s)
Lee, Won MokHa, Jung SookRyoo, Nam HeeJeon, Dong SeokKim, Jae Ryong
Department
Dept. of Laboratory Medicine (진단검사의학)
Journal Title
Laboratory Medicine Online
Issued Date
2015
Volume
5
Issue
1
Keyword
Myeloproliferative neoplasmEssential thrombocythemiaMPL W515JAK2 protein tyrosine kinase
Abstract
Background: Recently, myeloproliferative leukemia (MPL) W515 mutations have been reported to be molecular markers for myeloproliferative neoplasms (MPNs). We studied the association between MPL W515 mutations and the clinico-hematological features of patients with MPNs.
Methods: Our study included 154 consecutive patients diagnosed with MPNs (31 had polycythemia vera [PV]; 106, essential thrombocythemia [ET]; and 17, primary myelofibrosis [PMF]). MPL W515 mutations were detected by real-time PCR and direct sequencing methods. Results: The MPL W515L mutation was found in 4 patients and the MPL W515A mutation was detected in 1 patient. These 5 patients were diagnosed with JAK2 V617F-negative ET, and they accounted for 12.5% of patients with JAK2 V617F-negative ET. The patients with MPL W515-positive ET showed significantly lower hemoglobin levels and WBC counts than did patients with MPL W515-negative ET or JAK2 V617F-positive ET.
Conclusions: MPL W515 mutation is a useful diagnostic marker for JAK2 V617F-negative MPNs and it is associated with specific hematologic characteristics such as lower hemoglobin levels and WBC counts.
배경: 최근 myeloproliferative leukemia (MPL) W515 돌연변이가 골수증식종양(MPN)에서 발견되었고, 새로운 분자유전학적 표지자로제시되었다. 본 연구에서는 MPL W515 돌연변이 빈도 및 임상혈액학적 지표들과의 상관성을 알아보고자 하였다. 방법: 진성적혈구증가증(PV) 31명, 일차골수섬유증(PMF) 17명, 진성고혈소판증(ET) 106명을 포함한 총 154명의 MPN 환자를 대상으로 MPL W515 돌연변이를 실시간중합효소연쇄반응으로 검출하였고, 직접염기서열분석을 통해 재확인하였다. 결과: 전체 154명의 환자 중 5명(3.2%)의 환자에서 MPL W515 돌연변이가 확인되었다. 이들은 모두 ET환자였고, JAK2 V617F 음성으로, JAK2 V617F 음성 ET환자의 12.5%를 차지하였다. MPL W515 돌연변이 양성 ET 환자들은 MPL W515 음성이나 JAK2 V617F 양성 ET 환자에 비해 총백혈구수와 혈색소가 유의하게 낮았다. 결론: MPL W515 돌연변이는 JAK2 V617F 음성 MPN 환자의 진단에 중요한 표지자로 이용할 수 있으며, 심한 빈혈 양상이나 낮은 백혈구수 등 특징적인 임상혈액학적 소견을 가져 JAK2 V617F 음성 ET 및 다른 MPN 병태생리의 이해에 도움이 될 것이다.
Alternative Title
Frequency and Clinicohematologic Characteristics of MPL W515 Mutations in Patients with Myeloproliferative Neopla는
Keimyung Author(s)(Kor)
이원목
하정숙
류남희
전동석
김재룡
Publisher
School of Medicine
Citation
박성균 et al. (2015). 골수증식종양 환자에서 MPL W515 돌연변이 빈도와 임상혈액학적 특징. Laboratory Medicine Online, 5(1), 1–5. doi: 10.3343/lmo.2015.5.1.1
Type
Article
ISSN
2093-6338
DOI
10.3343/lmo.2015.5.1.1
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/36283
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
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