Recurrent CEP85L-PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia

Leuk Lymphoma. 2013 Jul;54(7):1527-31. doi: 10.3109/10428194.2012.753544. Epub 2013 Jan 28.


Fusion genes involving the catalytic domain of tyrosine kinases (TKs) play an important role in the pathogenesis of hematological malignancies and solid tumors. In BCR-ABL1-negative myeloproliferative neoplasms (MPNs) several different tyrosine kinase fusion events have been described, most commonly involving the genes encoding the platelet-derived growth factor receptor alpha (PDGFRA) or beta (PDGFRB). Since the introduction of small molecule kinase inhibitors, TK fusions have emerged as prime therapeutic targets. Here, we report a recurrent CEP85L-PDGFRB fusion in a patient with eosinophilia and an MPN. The fusion was confirmed by specific amplification of the genomic breakpoints and reverse transcription polymerase chain reaction (PCR). The patient was treated with imatinib and achieved hematologic and cytogenetic remission. Minimal residual disease screening over 3 years with nested PCR failed to detect CEP85L-PDGFRB mRNA or genomic DNA, confirming a long-term molecular remission on imatinib.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Antineoplastic Agents / therapeutic use
  • Base Sequence
  • Benzamides / therapeutic use
  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 6
  • Eosinophilia / complications*
  • Humans
  • Imatinib Mesylate
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / complications*
  • Myeloproliferative Disorders / drug therapy
  • Myeloproliferative Disorders / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Piperazines / therapeutic use
  • Protein Kinase Inhibitors / therapeutic use
  • Pyrimidines / therapeutic use
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Translocation, Genetic*
  • Treatment Outcome


  • Antineoplastic Agents
  • Benzamides
  • Oncogene Proteins, Fusion
  • Piperazines
  • Protein Kinase Inhibitors
  • Pyrimidines
  • Imatinib Mesylate
  • CEP85L-PDGFRB fusion protein
  • Receptor, Platelet-Derived Growth Factor alpha
  • Receptor, Platelet-Derived Growth Factor beta