Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera

Med Oncol. 2011 Dec;28(4):1555-8. doi: 10.1007/s12032-010-9570-8. Epub 2010 May 25.

Abstract

In 2007, a 27-year-old woman presented with mild splenomegaly. Blood counts showed hemoglobin (Hb): 17.8 g/dl, HCT: 56% and Red blood cells: 6.45×10(12)/L. Bone marrow examination disclosed a hypercellular marrow. Molecular analysis showed the presence of the JAK2 V617F mutation and BCR-ABL/BCR mRNA b3a2 transcript. A diagnosis of BCR-ABL-positive polycythemia vera (PV) was made. In 2009, she had nulipar pregnancy and treated with interferon-alpha. She delivered a healthy girl infant at 37 weeks. This case report suggests that in a PV pregnant woman with a concomitant presence of JAK2 V617F mutation and BCR-ABL translocation, the administration of interferon during the pregnancy could lead to a safe pregnancy and delivery.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Genes, abl / genetics
  • Humans
  • Immunologic Factors / therapeutic use
  • Interferon-alpha / therapeutic use
  • Janus Kinase 2 / genetics*
  • Mutation*
  • Polycythemia Vera / drug therapy
  • Polycythemia Vera / genetics*
  • Pregnancy
  • Pregnancy Complications, Hematologic / drug therapy
  • Pregnancy Complications, Hematologic / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic

Substances

  • Immunologic Factors
  • Interferon-alpha
  • Fusion Proteins, bcr-abl
  • JAK2 protein, human
  • Janus Kinase 2