Cancer Res Treat.  2021 Jul;53(3):889-892. 10.4143/crt.2020.1272.

Identification of a Novel CSNK2A1-PDGFRB Fusion Gene in a Patient with Myeloid Neoplasm with Eosinophilia

• Xu X
• Lu Q
• Wang Z
• Cai P
• Zeng Z
• Zhang L
• Wang M
• Ma L
• Ruan C
• Chen S

• KMID: 2518413
• DOI: http://doi.org/10.4143/crt.2020.1272

Abstract

Platelet-derived growth factor receptor beta (PDGFRB) rearrangements play an important role in the pathogenesis of eosinophilia-associated myeloid/lymphoid neoplasms. Up to now, more than 70 PDGFRB fusions have been identified. Here, a novel PDGFRB fusion gene CSNK2A1-PDGFRB has been identified in myeloproliferative neoplasm (MPN) with eosinophilia by RNA-sequencing, which has been verified by reverse transcription polymerase chain reaction and Sanger sequencing. The new PDGFRB fusion partner gene CSNK2A1 encoded one of the two catalytic subunit of casein kinase II (CK2). To our knowledge, this is the first report on the involvement of CSNK2A1 in fusion genes, especially fusion with another kinase PDGFRB in MPN. In addition, the CSNK2A1-PDGFRB fusion retained the entire kinase domain of PDGFRB and response to imatinib at low concentration. The patient with CSNK2A1-PDGFRB was sensitive to imatinib treatment and acquired sustained complete remission.

Keyword

CSNK2A1-PDGFRB; Myeloid neoplasms; RNA-seq; Imatinib

Figure

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  Fig. 1. Identification of novel CSNK2A1-PDGFRB fusions. (A) May-Grünwald-Giemsa staining showing several abnormal eosinophilia in the diagnostic bone marrow aspirate. (B) PDGFRB was stained in bone marrow of patient using immunohistochemistry. (C) Sanger sequencing revealed the fusion between exon 4 of the CSNK2A1 gene (NM_177559.3) and exon 12 of the PDGFRB gene (NM_002609.4). (D) Fusion model of CSNK2A1-PDGFRB are shown. (E) Immunoblot analysis show CSNK2A1-PDGFRB is constitutively activated and is inhibited by imatinib in a concentration-dependent manner. AM, ATP binding domain; B, CK2B subunit binding domain; IMA, imatinib; JM, juxtamembrane domain; PM, polypeptide binding domain; TK, tyrosine kinase domain; TM, transmembrane domain.

Reference

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