Concurrent JAK2-Positive Myeloproliferative Disorder and Chronic Myelogenous Leukemia: A Novel Entity? A Case Report With Review of the Literature

J Investig Med High Impact Case Rep. 2019 Jan-Dec:7:2324709619832322. doi: 10.1177/2324709619832322.

Abstract

JAK2 V617F mutation and BCR-ABL translocation have been considered to be mutually exclusive. However, many cases where both hits coexisted have been reported. We have personally managed a case too. We believe this hybrid entity is underdiagnosed. Thus, we decided to shed light on this "double hit" disease to improve its diagnosis and optimize its treatment. We reviewed the English literature in PubMed since JAK2 discovery. We found 33 cases reported so far. We summarized patient characteristics and analyzed possible interactions between JAK2 and BCR-ABL clones.

Keywords: BCR-ABL translocation; JAK2 mutation; chronic myelogenous leukemia; myeloproliferative disorder.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Bone Marrow Neoplasms / blood
  • Bone Marrow Neoplasms / genetics*
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • Janus Kinase 2 / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / blood
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Male
  • Mutation
  • Myeloproliferative Disorders / blood
  • Myeloproliferative Disorders / genetics*

Substances

  • BCR-ABL1 fusion protein, human
  • Fusion Proteins, bcr-abl
  • JAK2 protein, human
  • Janus Kinase 2