Virchows Archiv

, 459:521

JAK2-V617F-mutated myeloproliferative neoplasms reveal different allele burden within hematopoietic cell lineages: a microdissection study of bone marrow trephine biopsies

  • Andreas Kreft
  • Thomas Kindler
  • Erik Springer
  • Charles James Kirkpatrick
Original Article

DOI: 10.1007/s00428-011-1154-2

Cite this article as:
Kreft, A., Kindler, T., Springer, E. et al. Virchows Arch (2011) 459: 521. doi:10.1007/s00428-011-1154-2

Abstract

The JAK2-V617F mutation is prevalent in almost all patients with polycythemia vera (PV) and about half of the cases of essential thrombocythaemia (ET) and primary myelofibrosis (PMF). A different allele burden in these entities has long been noticed, but little is known about its distribution among the neoplastic hematopoietic cell lineages within the bone marrow. We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis). Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in ET (17/30), higher in PV (24/30) and in PMF (22/30). The megakaryopoiesis was the most commonly mutated cell lineage (24/30 cases). By analyzing microdissectates we were able to demonstrate a different allele burden of the JAK2-V617F mutation in the megakaryo-, erythro-, and granulopoiesis within the bone marrow of a given case of MPN. We demonstrated differences in the number of mutated cell lineages. The different mutation status may contribute to the different phenotypes of ET, PV, and PMF.

Keywords

MPNJAK2-V617F mutationMicrodissection

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Andreas Kreft
    • 1
  • Thomas Kindler
    • 2
  • Erik Springer
    • 1
  • Charles James Kirkpatrick
    • 1
  1. 1.Institut für PathologieUniversitätsmedizin MainzMainzGermany
  2. 2.Division of Hematology, Oncology and Pneumology, Internal Medicine 3Universitätsmedizin MainzMainzGermany