The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1

Blood. 1999 Feb 15;93(4):1381-9.

Abstract

In patients with an atypical stem-cell myeloproliferative disorder with lymphoma (B or T cell), myeloid hyperplasia, and eosinophilia, the chromosome 8p11-12 region is the site of a recurrent breakpoint that can be associated with three different partners, 6q27, 9q32-34, and 13q12. Rearrangements are supposed to affect a pluripotent stem cell capable of myeloid and lymphoid differentiation and to involve the same 8p11-12 gene. The t(8;13) translocation has recently been shown to result in a fusion between the FGFR1 gene that encodes a tyrosine kinase receptor for fibroblast growth factors and a novel gene, FIM (also called RAMP or ZNF198), belonging to a novel family of zinc finger genes. In the present study, we have cloned the t(6;8)(q27;p11) translocation in two patients and found a fusion between FGFR1 and a novel gene, FOP (FGFR1 Oncogene Partner), located on chromosome band 6q27. This gene is alternatively spliced and ubiquitously expressed. It encodes a protein containing two regions of putative leucine-rich repeats putatively folding in alpha-helices and separated by a hydrophobic spacer. The two reciprocal fusion transcripts were evidenced by reverse transcription-polymerase chain reaction in the tumoral cells of the patients. The predicted chimeric FOP-FGFR1 protein contains the FOP N-terminus leucine-rich region fused to the catalytic domain of FGFR1. It may promote hematopoietic stem cell proliferation and leukemogenesis through a constitutive phosphorylation and activation of the downstream pathway of FGFR1.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 8*
  • Cloning, Molecular
  • Genome, Human*
  • Hematopoietic Stem Cells / pathology
  • Humans
  • Leucine / genetics*
  • Male
  • Molecular Sequence Data
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / pathology
  • Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins
  • Receptors, Fibroblast Growth Factor / genetics*
  • Translocation, Genetic*

Substances

  • CEP43 protein, human
  • Oncogene Proteins
  • Proto-Oncogene Proteins
  • Receptors, Fibroblast Growth Factor
  • Leucine

Associated data

  • GENBANK/Y18046