Abstract
We report two new cases with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion. Case 1 presented with polycythaemia vera (PV) and evolved over 4 years to a myeloproliferative disorder (MPD) resembling the 8p11 myeloproliferative syndrome (EMS). Case 2 presented with B-cell lymphoblastic leukaemia (B-ALL). These cases illustrate the clinical heterogeneity observed in patients with FGFR1 rearrangements and suggest that constitutively activated tyrosine kinases may be more widespread in MPDs.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Analysis of Variance
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Burkitt Lymphoma / blood
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Burkitt Lymphoma / genetics*
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Burkitt Lymphoma / therapy
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Chromosomes, Human, Pair 6*
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Chromosomes, Human, Pair 8*
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Fatal Outcome
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Female
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Humans
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Leucine / genetics
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Male
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Myeloproliferative Disorders / blood
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Myeloproliferative Disorders / genetics*
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Myeloproliferative Disorders / therapy
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Oncogene Proteins, Fusion / genetics*
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Polycythemia Vera / blood
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Polycythemia Vera / genetics*
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Polycythemia Vera / therapy
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Proto-Oncogene Proteins
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Receptor Protein-Tyrosine Kinases / genetics
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Receptor, Fibroblast Growth Factor, Type 1
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Receptors, Fibroblast Growth Factor / genetics
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Translocation, Genetic / genetics*
Substances
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CEP43 protein, human
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Oncogene Proteins, Fusion
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Proto-Oncogene Proteins
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Receptors, Fibroblast Growth Factor
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FGFR1 protein, human
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 1
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Leucine