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Myeloid Neoplasm with PCM1-PDGFRB Transcript Responded to Low-Dose Imatinib: One Case Report with Literature Review
1Department of Leukemia, State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China, wangzheqy@126.com.
A rare PCM1-PDGFRB fusion gene was identified in a patient with myelodysplastic/myeloproliferative neoplasms (MDS/MPN-U). RNA-seq and subsequent analyses confirmed the fusion, and imatinib treatment led to complete molecular remission, highlighting RNA-seq
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are a group of clonal hematopoietic stem cell disorders.
- Rearrangements involving the Platelet-Derived Growth Factor Receptor Beta (PDGFRB) gene are known drivers in a subset of myeloid/lymphoid neoplasms.
- Identifying novel fusion partners is crucial for understanding disease mechanisms and developing targeted therapies.
Observation:
- RNA-sequencing (RNA-seq) analysis in an adult patient with unclassifiable MDS/MPN-U revealed a novel fusion gene.
- Conventional karyotype and fluorescence in situ hybridization (FISH) confirmed a t(5;8)(q32;p22) translocation involving PDGFRB.
- Reverse transcription PCR (RT-PCR) and Sanger sequencing precisely characterized the PCM1-PDGFRB fusion transcript.
Findings:
- A rare fusion event between PCM1 exon 30 and PDGFRB exon 11 was identified, with a 14 bp deletion in PDGFRB exon 11.
- The identified PCM1-PDGFRB fusion is a novel driver in myeloid neoplasms.
- The patient achieved complete molecular remission following low-dose imatinib therapy, indicating sensitivity to targeted treatment.
Implications:
- This discovery expands the spectrum of known PDGFRB rearrangements in myeloid/lymphoid neoplasms.
- RNA-sequencing is a powerful tool for detecting cryptic gene fusions, including those involving PDGFRB.
- Targeted therapy with imatinib can be effective in patients with PCM1-PDGFRB fusion, underscoring the importance of molecular diagnostics.
