Myeloid Neoplasm with <b><i>PCM1-PDGFRB</i></b> Transcript Responded to Low-Dose Imatinib: One Case Report with Literature Review

Abstract

Through an RNA-seq analysis of an adult patient with unclassifiable myelodysplastic/myeloproliferative neoplasms (MDS/MPN-U), we identified a rare <i>PDGFRB</i> fusion partner gene, <i>PCM1</i>. Conventional chromosome karyotype analysis showed abnormal clones of t(5;8)(q32;p22), and fluorescence in situ hybridization (FISH) confirmed rearrangement of the <i>PDGFRB</i> gene. Reverse transcription PCR (RT-PCR) and Sanger sequencing further confirmed that exon 30 of the <i>PCM1</i> gene was fused with exon 11 of <i>PDGFRB</i> in frame, and the fusion event was accompanied by a 14 bp deletion of exon 11 of <i>PDGFRB</i>. After low-dose imatinib treatment, the patient achieved complete molecular remission. This study not only broadens the understanding of myeloid/lymphoid neoplasms with <i>PDGFRB</i> rearrangement but also reflects the vital role of RNA-seq in identifying <i>PDGFRB</i> rearrangements.