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

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.
AuthorsArjan Buijs, Merel van Wijnen, Dorine van den Blink, Mariëlle van Gijn, Saskia K Klein
JournalCancer genetics (Cancer Genet) Vol. 206 Issue 4 Pg. 140-4 (Apr 2013) ISSN: 2210-7762 [Print] United States
PMID23751892 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2013 Elsevier Inc. All rights reserved.
Chemical References
  • 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
  • Antineoplastic Agents (adverse effects, therapeutic use)
  • Base Sequence
  • Benzamides (adverse effects, 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, genetics)
  • Piperazines (adverse effects, therapeutic use)
  • Pyrimidines (adverse effects, therapeutic use)
  • Real-Time Polymerase Chain Reaction
  • Receptor, Fibroblast Growth Factor, Type 1 (genetics)
  • Transcription Factors (genetics)
  • Tumor Lysis Syndrome (etiology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: