Haematologica
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Haematologica, Vol 90, Issue 12, 1696-1697
Copyright © 2005 by Ferrata Storti Foundation


Case Reports

Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation

DP Mc Lornan, MJ Percy, AV Jones, NC Cross, and MF Mc Mullin

Chronic neutrophilic leukemia (CNL) is a rare disease and can cause considerable diagnostic difficulty. Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. Here we report the presence of the V617F mutation in a CNL patient, who is unusual for having survived for more than 96 months, with little disease progression. It remains to be established what role this mutation, which gives cells a proliferative advantage, might play in the pathogenesis and prognosis of rare atypical MPD.


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D. P. Steensma
JAK2 V617F in Myeloid Disorders: Molecular Diagnostic Techniques and Their Clinical Utility: A Paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology
J. Mol. Diagn., September 1, 2006; 8(4): 397 - 411.
[Abstract] [Full Text] [PDF]




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