The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders

Thomas Stauffer Larsen*, Jacob Haaber Christensen, Hans Carl Hasselbalch, Niels Pallisgaard

*Corresponding author

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

Abstract

The JAK2 V617F mutation is a frequent genetic event in the three classical Philadelphia-chromosome negative chronic myeloproliferative disorders (Ph neg.-CMPD), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Its occurrence varies in frequency in regards to phenotype. The mutation is found in the majority of patients with PV and about half of the patients with ET and IMF. These diseases are clonal stem cell disorders arising in an early stem cell progenitor. The level in the stem cell hierarchy on which the initiating genetic events and the JAK2 V617F mutation occurs is not known. The mutation has so far been detected in all cells of the myeloid lineage, whereas the potential clonal involvement of the lymphoid lineage is controversial. In this study, we detected the JAK2 V617F mutation by real-time quantitative PCR (qPCR) in both B-lymphocytes and T-lymphocytes in a subgroup of patients with Phneg.-CMPDs. These results demonstrate the origin of the JAK2 V617F positive disorders in an early stem cell with both lymphoid and myeloid differentiation potential.

OriginalsprogEngelsk
TidsskriftBritish Journal of Haematology
Vol/bind136
Udgave nummer5
Sider (fra-til)745-751
Antal sider7
ISSN0007-1048
DOI
StatusUdgivet - mar. 2007
Udgivet eksterntJa

Emneord

  • Clonality
  • Fluorescence-activated cell sorted
  • Mutation analysis
  • Myeloproliferative
  • Real-time quantitative PCR

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