Frequency and Clinicohematologic Characteristics of MPL W515 Mutations in Patients with Myeloproliferative Neoplasms.
- Author:
Sung Gyun PARK
1
;
Kyoung Bo KIM
;
Wonmok LEE
;
Jung Sook HA
;
Nam Hee RYOO
;
Dong Seok JEON
;
Jae Ryong KIM
;
Ji Yeon HAM
;
Jang Soo SUH
;
Yu Kyung KIM
Author Information
- Publication Type:Original Article
- Keywords: Myeloproliferative neoplasm; Essential thrombocythemia; MPL W515; JAK2 protein tyrosine kinase
- MeSH: Humans; Janus Kinase 2; Leukemia; Polycythemia Vera; Primary Myelofibrosis; Real-Time Polymerase Chain Reaction; Thrombocythemia, Essential
- From:Laboratory Medicine Online 2015;5(1):1-1
- CountryRepublic of Korea
- Language:Korean
- 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.
