Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript

Acta Haematol. 2019;141(1):23-27. doi: 10.1159/000494427. Epub 2018 Nov 21.

Abstract

Myeloproliferative neoplasms (MPNs) are clonal disorders divided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) or Ph chromosome-negative MPNs. Co-occurrence of these disease entities is very rare and typically involves presence of common p190 or p210 BCR/ABL fusion transcript (responsible for CML) along with JAK2V617F mutation (most common driver mutation in Ph-negative MPNs). Because of the rarity of such cases, it is not clear if the outcomes are any different in these patients. In this article, we report a unique patient with polycythemia vera driven by a rare complex in-frame deletion-insertion mutation in JAK2 exon 12, and CML driven by uncommon p210 e14a3 (b3a3) BCR/ABL fusion transcript. We describe clinical and laboratory features, bone marrow pathology, treatment, and overall outcome.

Keywords: JAK2 exon 12 mutation; Myeloproliferative neoplasm; Philadelphia chromosome-positive chronic myeloid leukemia; p210 e14a3 BCR/ABL fusion transcript.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Bone Marrow / pathology
  • Exons
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Janus Kinase 2 / genetics*
  • Karyotype
  • Male
  • Mutation
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics

Substances

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