A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment

Cancer Genet. 2013 Apr;206(4):140-4. doi: 10.1016/j.cancergen.2013.04.001.

Abstract

The 8p11 myeloproliferative neoplasm (8p11 MPN) is a rare disorder that is molecularly characterized by fusions of diverse partners to the tyrosine kinase receptor gene FGFR1. It can rapidly transform to acute myeloid leukemia. Here we report on a case with a t(8;13)(p11.2;q12.1) ZMYM2-FGFR1 fusion, with massive tumor lysis upon tyrosine kinase inhibition with imatinib. Upon reevaluation, we detected trisomy 21 in addition to the translocation. Sequencing revealed a nonsense c.958C →T RUNX1 mutation both at diagnosis and disease progression, resulting in a p.Arg320X carboxyl-terminal truncated RUNX1 protein. This is the first report on an 8p11 MPN with a trisomy 21 RUNX1 mutation.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / adverse effects
  • Antineoplastic Agents / therapeutic use*
  • Base Sequence
  • Benzamides / adverse effects
  • Benzamides / therapeutic use*
  • Chromosomes, Human, Pair 8*
  • Codon, Nonsense*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Imatinib Mesylate
  • Karyotyping
  • Middle Aged
  • Myeloproliferative Disorders / drug therapy*
  • Myeloproliferative Disorders / genetics*
  • Piperazines / adverse effects
  • Piperazines / therapeutic use*
  • Pyrimidines / adverse effects
  • Pyrimidines / therapeutic use*
  • Real-Time Polymerase Chain Reaction
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Transcription Factors / genetics*
  • Tumor Lysis Syndrome / etiology*

Substances

  • Antineoplastic Agents
  • Benzamides
  • Codon, Nonsense
  • Core Binding Factor Alpha 2 Subunit
  • DNA Primers
  • DNA-Binding Proteins
  • Piperazines
  • Pyrimidines
  • RUNX1 protein, human
  • Transcription Factors
  • ZMYM2 protein, human
  • Imatinib Mesylate
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1