The thrombopoietin receptor W515L and W515k mutations detection in patients with essential thrombocythemia
Abstract
Background: The aim of the study was to investigate the frequency of the thrombopoietin receptor (MPL) W515L and W515K mutations in our cohort of essential thrombocythemia (ET) patients negative for the somatic JAK2 V617F mutation, and to compare the results to those published in the literature. Methods: Seventy-seven ET patients (59 female, 18 male), median age 48 (range from 18 to 89 years) and negative for JAK2 V617F mutation were included in the study. Granulocytes were isolated from patients’ venous blood samples by Ficoll density gradient centrifugation followed by red blood cell lysis procedure. DNA was isolated from granulocytes by QIAamp DNA Mini Kit from Qiagen (USA). The detection of MPL W515L/K mutations was carried out by test designed by Ipsogen (France) using the fluorescence-based quantitative real-time PCR (qPCR) and allelic discrimination method. Results: MPL W515L and MPL W515K mutations in our cohort of patients with ET and negative for the somatic JAK2 V617F mutation was found in 4 % (N = 3) and 2 % (N = 1), respectively. Both mutations were found in 5 % of ET patients included in the study (N = 77). Conclusions: We have found out that the frequency of MPL W515L/K mutation was similar to those published in the literature and was 5 %. The MPL W515L mutation frequency was higher than MPL W515K. The assay is suitable for the routine detection of MPL W515L/K mutations in patients with ET and negative for the somatic JAK2 V617F mutation.Downloads
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
