골수증식종양 환자에서 MPL W515 돌연변이 빈도와 임상혈액학적 특징

Other Titles
Frequency of MPL W515 Mutations and Clinicohematological Features in Myeloproliferative Neoplasms Patients
Authors
박성균
Issue Date
2014-06
Awarded Date
2014
Abstract
최근 MPL(Myeloproliferative neoplam) W515 돌연변이가 골수증식종양(MPN)에서 발견되었고, 새로운 분자유전학적 표지자로 제시되었다. 본 연구에서는 MPL W515 돌연변이 빈도 및 임상혈액학적 지표들과의 상관성을 알아보고자 하였다. 진성적혈구증가증(PV) 31명, 일차골수섬유증(PMF) 17명, 진성고혈소판증(ET) 106명을 포함한 총 154명의 MPN 환자를 대상으로 MPL W515 돌연변이를 실시간중합효소검사로 검출하였고, 직접 염기서열분석을 통해 재확인하였다. 전체 154명의 환자 중 5명(3.2%)의 환자에서 MPL W515 돌연변이가 확인되었다. 이들은 모두 ET 환자였고, JAK2 V617F 음성으로, JAK2 V617F 음성 ET 환자의 12.5%를 차지하였다. MPL W515 돌연변이 양성 ET 환자들은 MPL W515 음성이나 JAK2 V617F 양성 ET 환자에 비해 총백혈구수와 혈색소가 유의하게 낮았다. MPL W515 돌연변이는 JAK2 V617F 음성 MPN 환자 진단에 중요한 표지자로 쓰일 수 있으며, 심한 빈혈 양상이나 낮은 백혈구수 등 특징적인 임상혈액학적 소견을 가져 JAK2 V617F 음성 ET 및 다른 MPN 병태생리의 이해에 도움이 될 것으로 판단된다.
Recently, MPL (myeloproliferative leukemia) W515 mutations were reported in myeloproliferative neoplasms (MPNs) as a new molecular marker. The frequency of MPL W515 mutations and the relationship with the clinicohematological features in MPN patients were investigated in this study. One hundred fifty four consecutive patients who had been diagnosed as MPNs, 31 polycythaemia vera (PV), 106 essential thrombocythemia (ET) and 17 primary myelofibrosis (PMF), were included. The MPL W515 mutations were detected by both real-time PCR and direct sequencing methods. Four patients with MPL W515L and 1 patient with W515A were found in studied population. These patients were all diagnosed as JAK2 V617F negative ET, which were accounted for 12.5% of JAK2 V617F negative ET patients. The MPL W515 positive ET patients revealed significantly lower hemoglobin and WBC counts compared to MPL W515 negative or JAK2 V617F positive ET patients. Therefore, MPL W515 mutation is a useful diagnostic marker for JAK2 V617F negative MPNs and is associated with specific hematologic characteristics, such as lower hemoglobin and lower WBC count.
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/11417
Appears in Collections:
3. 학위논문 > 1. School of Medicine (의과대학) > 석사
Full Text
http://dcollection.kmu.ac.kr//jsp/common/DcLoOrgPer.jsp?sItemId=000000045115
File in this Item
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE