A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31)

Mol Genet Genomic Med. 2019 Apr;7(4):e00591. doi: 10.1002/mgg3.591. Epub 2019 Jan 29.


Background: Platelet-derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B-acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled-coil domain containing 2 (GCC2).

Patient and methods: A 54-year-old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia. Cytogenetic analysis of the bone marrow revealed the presence of t(2;5)(q37;q31). Fluorescence in situ hybridization analysis in the peripheral blood leukocytes revealed the presence of a split signal at PDGFRB gene. Imatinib treatment was effective, and disappearance of t(2;5)(q37;q31) in the bone marrow was confirmed after three months of imatinib therapy. Whole-genome sequencing was performed in peripheral blood leukocytes collected before imatinib therapy.

Results: A novel fusion gene between exon 22 of GCC2 and exon 12 of PDGFRB was detected and the presence of GCC2-PDGFRB was confirmed by PCR.

Conclusion: This is the first case report demonstrating the GCC2 gene as a partner of PDGFRB in the pathogenesis of CEL.

Keywords: GCC2; PDGFRB; chronic eosinophilic leukemia; imatinib.

Publication types

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

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 5 / genetics
  • Golgi Matrix Proteins / genetics*
  • Humans
  • Hypereosinophilic Syndrome / genetics*
  • Hypereosinophilic Syndrome / pathology
  • Leukemia / genetics*
  • Leukemia / pathology
  • Male
  • Middle Aged
  • Oncogene Fusion
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Translocation, Genetic


  • Biomarkers, Tumor
  • GCC2 protein, human
  • Golgi Matrix Proteins
  • Oncogene Proteins, Fusion
  • PDGFRB protein, human
  • Receptor, Platelet-Derived Growth Factor beta

Supplementary concepts

  • Pdgfra-Associated Chronic Eosinophilic Leukemia