Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases

Hematol J. 2004;5(6):534-7. doi: 10.1038/sj.thj.6200561.

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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Analysis of Variance
  • Burkitt Lymphoma / blood
  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / therapy
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 8*
  • Fatal Outcome
  • Female
  • Humans
  • Leucine / genetics
  • Male
  • Myeloproliferative Disorders / blood
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / therapy
  • Oncogene Proteins, Fusion / genetics*
  • Polycythemia Vera / blood
  • Polycythemia Vera / genetics*
  • Polycythemia Vera / therapy
  • Proto-Oncogene Proteins
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptors, Fibroblast Growth Factor / genetics
  • Translocation, Genetic / genetics*

Substances

  • CEP43 protein, human
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • Receptors, Fibroblast Growth Factor
  • FGFR1 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 1
  • Leucine