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.
Copyright © 2013 Elsevier Inc. All rights reserved.
MeSH terms
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Antineoplastic Agents / adverse effects
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Antineoplastic Agents / therapeutic use*
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Base Sequence
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Benzamides / adverse effects
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Benzamides / therapeutic use*
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Chromosomes, Human, Pair 8*
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Codon, Nonsense*
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Core Binding Factor Alpha 2 Subunit / genetics*
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DNA Primers
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DNA-Binding Proteins / genetics*
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Female
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Humans
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Imatinib Mesylate
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Karyotyping
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Middle Aged
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Myeloproliferative Disorders / drug therapy*
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Myeloproliferative Disorders / genetics*
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Piperazines / adverse effects
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Piperazines / therapeutic use*
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Pyrimidines / adverse effects
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Pyrimidines / therapeutic use*
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Real-Time Polymerase Chain Reaction
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Receptor, Fibroblast Growth Factor, Type 1 / genetics*
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Transcription Factors / genetics*
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Tumor Lysis Syndrome / etiology*
Substances
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Antineoplastic Agents
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Benzamides
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Codon, Nonsense
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Core Binding Factor Alpha 2 Subunit
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DNA Primers
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DNA-Binding Proteins
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Piperazines
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Pyrimidines
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RUNX1 protein, human
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Transcription Factors
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ZMYM2 protein, human
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Imatinib Mesylate
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FGFR1 protein, human
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Receptor, Fibroblast Growth Factor, Type 1