Detection of the JAK2V617F mutation in myeloproliferative disorders - an overview and own experiences

Authors: Z. Křístková;  D. Dvořáková;  F. Rázga;  J. Pospíšilová;  J. Kujíčková;  M. Doubek;  J. Mayer
Authors‘ workplace: Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika (IHOK), FN Brno a LF MU, kooperující pracoviště České leukemické skupiny – pro život (CELL , The CzEch Leukemia Study Group – for Life)
Published in: Transfuze Hematol. dnes,15, 2009, No. 3, p. 143-148.
Category: Comprehensive Reports, Original Papers, Case Reports


The lack of reliable molecular markers is responsible for difficult detection and monitoring of Ph-negative myeloproliferative diseases, such as polycythemia vera, essential thrombocythemia or idiopathic myelofibrosis. In recent years, the V617F point mutation in the JAK2 gene (JAK2V617F) come to be a feasible marker for confirmation and evaluation of such hematology disorders. In this paper we report a review of diagnostic methods developed for investigation of JAK2 gene mutations and we present our experience with detection of JAK2V617F. Two methods (allelic discrimination analysis and real-time polymerase chain reaction for quantitative determination of mutant allele burden) are compared and discussed. We conclude that this detection of JAK2V617F mutant allele burden may be used for establishing possible correlation between clinical symptoms and hematologic abnormalities for patients suffering from myeloproliferative disorders.

Key words:
JAK2V617F, myeloproliferative disorders, real-time polymerase chain reaction, allelic discrimination, allele burden


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Haematology Internal medicine Clinical oncology
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