Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells

Am J Hematol. 2013 Feb;88(2):157-8. doi: 10.1002/ajh.23362. Epub 2012 Dec 24.

Abstract

The simultaneous occurrence of polycythemia vera (PV) and chronic lymphocytic leukemia (CLL) is a rare event that offers a possibility to study their common origin. PV originates from self-renewing hematopoietic stem cells (HSC) with both lymphoid and myeloid potential(–3). It has been reported that CLL also originates from self-renewing HSC with a potential for both lymphoid and myeloid differentiation(4, 5). We report 3 females with concomitant CLL and PV whose X-chromosome inactivation patterns of the neoplastic cells revealed that granulocytes/platelets and B-lymphocytes used different X-chromosome alleles. These data indicate that both PV and CLL have arisen independently and from different HSC.

Publication types

  • Case Reports
  • Comparative Study
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Amino Acid Substitution
  • B-Lymphocytes / metabolism
  • Blood Platelets / metabolism
  • Cell Lineage
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Clone Cells
  • Female
  • Granulocytes / metabolism
  • Hematopoietic Stem Cells / metabolism*
  • Hematopoietic Stem Cells / pathology
  • Humans
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism
  • Leukemia, Lymphocytic, Chronic, B-Cell / blood
  • Leukemia, Lymphocytic, Chronic, B-Cell / complications*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / metabolism
  • Mutation*
  • Polycythemia Vera / blood
  • Polycythemia Vera / complications*
  • Polycythemia Vera / genetics*
  • Polycythemia Vera / metabolism
  • T-Lymphocytes / metabolism
  • X Chromosome Inactivation

Substances

  • JAK2 protein, human
  • Janus Kinase 2