Unique case of myeloproliferative neoplasm with two rare clonal abnormalities: Rare JAK2 Exon 12 mutation and rare e14a3 (b3a3) BCR/ABL fusion transcript

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3 Scopus citations

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 JAK2 V617F 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.

Original languageEnglish (US)
Pages (from-to)23-27
Number of pages5
JournalActa haematologica
Volume141
Issue number1
DOIs
StatePublished - Jan 1 2019

Keywords

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

ASJC Scopus subject areas

  • Hematology

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