Srpski arhiv za celokupno lekarstvo 2010 Volume 138, Issue 9-10, Pages: 614-618
https://doi.org/10.2298/SARH1010614S
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JAK2-V617F mutation in patients with myeloproliferative neoplasms: Association with FLT3-ITD mutation
Spasovski Vesna
Tošić Nataša
Kostić Tatjana
Pavlović Sonja
Čolović Milica
Introduction. An acquired somatic mutation V617F in Janus kinase 2 gene
(JAK2) is the cause of uncontrolled proliferation in patients with
myeloproliferative neoplasms. It is known that uncontrolled myeloid cell
proliferation is also provoked by alteration in other genes, e.g. mutations
in receptor tyrosine kinase FLT3 gene. FLT3 represents the most frequently
mutated gene in acute myeloid leukaemia. Interestingly, mutated FLT3- ITD
(internal tandem duplication) protein is a member of the same signalling
pathway as JAK2 protein, the STAT5 signalling pathway. STAT5 activation is
recognized as important for selfrenewal of haematopoetic stem cells.
Objective. The aim of this study was the detection of JAK2- V617F mutation in
patients with myeloproliferative neoplasms. Additionally, we investigated the
presence of FLT3-ITD mutation in JAK2-V617F-positive patients in order to
shed the light on the hypothesis of a similar role of these two molecular
markers in haematological malignancies. Methods. Using allele-specific PCR,
61 patients with known or suspected diagnosis of myeloproliferative neoplasms
were tested for the presence of JAK2-V617F mutation. Samples that were
positive for JAK2 mutation were subsequently tested for the presence of
FLT3-ITD mutation by PCR. Results. Eighteen of 61 analysed patients were
positive for JAK2-V617F mutation. Among them, 8/18 samples were diagnosed as
polycythaemia vera, and 10/18 as essential thrombocythaemia. None of
JAK2-V617F-positive patient was positive for FLT3-ITD mutation. Conclusion.
This study suggests that one activating mutation is sufficient for aberrant
cell proliferation leading to malignant transformation of haematopoetic stem
cell.
Keywords: myeloproliferative neoplasms, JAK2-V617F mutation, allele-specific PCR, FLT3-ITD mutation
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