Myeloid/Lymphoid Neoplasm with PDGFRB Rearrangement with t (5;10) (q33;q22) Harboring a Novel Breakpoint of the CCDC6-PDGFRB Fusion Gene

Intern Med. 2019 Dec 1;58(23):3449-3453. doi: 10.2169/internalmedicine.3220-19. Epub 2019 Jul 22.

Abstract

Myeloid/lymphoid neoplasms with PDGFRB rearrangement are a distinct type of myeloid neoplasms that occur in association with rearrangement of PDGFRB at 5q32. The hematological features most often show prominent eosinophilia. We herein report a patient with myeloid/lymphoid neoplasms with PDGFRB rearrangement with t (5;10) (q33;q22) who showed atypical chronic myeloid leukemia-like clinical features without eosinophilia and achieved an optimal response to imatinib. A sequence analysis showed a CCDC6-PDGFRB fusion gene with a new break point in the PDGFRB gene. This is the sixth case of myeloid/lymphoid neoplasm with PDGFRB rearrangement harboring a CCDC6-PDGFRB fusion gene, and it has a new breakpoint in the PDGFRB fusion gene.

Keywords: CCDC6-PDGFRB; atypical chronic myeloid leukemia; imatinib; myeloid/lymphoid neoplasms with PDGFRB rearrangement; t (5;10) (q33;q22).

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Cytoskeletal Proteins / genetics*
  • Eosinophilia / genetics
  • Gene Rearrangement / genetics
  • Humans
  • Imatinib Mesylate / therapeutic use*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Translocation, Genetic / genetics

Substances

  • Antineoplastic Agents
  • CCDC6 protein, human
  • Cytoskeletal Proteins
  • Oncogene Proteins, Fusion
  • Imatinib Mesylate
  • PDGFRB protein, human
  • Receptor, Platelet-Derived Growth Factor beta