Acute myeloid leukemia with MYC rearrangement and JAK2 V617F mutation

Cancer Genet. 2015 Nov;208(11):571-4. doi: 10.1016/j.cancergen.2015.06.004. Epub 2015 Jun 25.

Abstract

Little is known about MYC dysregulation in myeloid malignancies, and the authors were unable to find published studies that evaluated MYC protein expression in primary cases of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Herein, we describe the clinical, morphologic, immunophenotypic, cytogenetic, and molecular genetic findings in two MDS/AML cases that contained both MYC rearrangement and the JAK2 V617F mutation. We also demonstrate MYC protein expression by immunohistochemistry in both patients.

Keywords: Acute myeloid leukemia; JAK2 V617F mutation; MYC; blastic plasmacytoid dendritic cell neoplasm.

Publication types

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

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 6 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / metabolism
  • Leukemia, Myeloid, Acute / pathology*
  • Male
  • Middle Aged
  • Mutation
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / metabolism
  • Myelodysplastic Syndromes / pathology*
  • Proto-Oncogene Proteins c-myc / genetics*
  • Proto-Oncogene Proteins c-myc / metabolism
  • Translocation, Genetic

Substances

  • MYC protein, human
  • Proto-Oncogene Proteins c-myc
  • JAK2 protein, human
  • Janus Kinase 2