Open AccessMyeloid Neoplasm with <b><i>PCM1-PDGFRB</i></b> Transcript Responded to Low-Dose Imatinib: One Case Report with Literature Review
Author(s) -
Zhe Wang,
Li Wan,
Dongxin Lin,
Chengwen Li,
Zheng Tian,
Yingchang Mi
Publication year - 2022
Publication title -
acta haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 56
eISSN - 1421-9662
pISSN - 0001-5792
DOI - 10.1159/000524275
Subject(s) - pdgfrb , fusion gene , microbiology and biotechnology , exon , cancer research , biology , gene rearrangement , gene , genetics
Through an RNA-seq analysis of an adult patient with unclassifiable myelodysplastic/ myeloproliferative neoplasms (MDS/MPN-U), we identified a rare PDGFRB fusion partner gene, PCM1. Conventional chromosome karyotype analysis showed abnormal clones of t(5;8)(q32;p22), and fluorescence in situ hybridization (FISH) confirmed rearrangement of the PDGFRB gene. Reverse transcription PCR (RT–PCR) and Sanger sequencing further confirmed that exon 30 of the PCM1 gene was fused with exon 11 of PDGFRB in frame, and the fusion event was accompanied by a 14 bp deletion of exon 11 of PDGFRB. After low-dose imatinib treatment, the patient achieved complete molecular remission. This study not only broadens the understanding of myeloid/lymphoid neoplasms with PDGFRB rearrangement but also reflects the vital role of RNA-seq in identifying PDGFRB rearrangements.