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KMID : 1100820150050010001
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Laboratory Medicine Online
2015 Volume.5 No. 1 p.1 ~ p.5
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Frequency and Clinicohematologic Characteristics of MPL W515 Mutations in Patients with Myeloproliferative Neoplasms
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Park Sung-Gyun
Kim Kyoung-Bo
Lee Won-Mok
Ha Jung-Sook
Ryoo Nam-Hee
Jeon Dong-Suk
Kim Jae-Ryong
Ham Ji-Yeon
Suh Jang-Soo
Kim Yu-Kyung
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Abstract
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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.
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KEYWORD
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Myeloproliferative neoplasm, Essential thrombocythemia, MPL W515, JAK2 protein tyrosine kinase
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