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

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.
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
Topics
  • 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)

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