Lab Med Online.  2015 Jan;5(1):1-1. 10.3343/lmo.2015.5.1.1.

Frequency and Clinicohematologic Characteristics of MPL W515 Mutations in Patients with Myeloproliferative Neoplasms

Affiliations
  • 1Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea. ksksmom@dsmc.or.kr
  • 2Department of Clinical Pathology, Kyungpook National University School of Medicine, Daegu, Korea.
  • 3Department of Laboratory Medicine, Yeungnam University School of Medicine, Daegu, Korea.

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.

Keyword

Myeloproliferative neoplasm; Essential thrombocythemia; MPL W515; JAK2 protein tyrosine kinase
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