Key result
Low-dose imatinib achieves complete molecular remission at 1.5 years in a PCM1::PDGFRB fusion case.
Why the study?
Detection of PDGFRB fusions is important for accurate diagnosis and therapeutic intervention because patients achieve rapid responses to tyrosine kinase inhibitor treatment despite molecular and clinical heterogeneity.
Case Report (n=1)
No
RNA sequencing can successfully identify cytogenetically cryptic PDGFRB fusions in myeloid neoplasms, enabling highly effective targeted therapy with imatinib.
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PDGFRB fusion testing may identify TKI-responsive eosinophilic myeloid neoplasms; leaves open optimal diagnostic algorithms.
Chromosomal translocations of 5q31-33 result in rearrangement of the PDGFRB gene (platelet-derived growth factor receptor beta), leading to a unique group of myeloid neoplasms with frequent eosinophilia. More than 40 fusion partners of PDGFRB have been reported, and despite molecular and clinical heterogeneity, patients with PDGFRB rearrangement achieve rapid responses to tyrosine kinase inhibitor treatment. Therefore, detection of these fusions is of great importance for accurate diagnosis and therapeutic intervention. Here, we report a case with delayed diagnosis of myeloid neoplasm with eosinophilia and PDGFRB rearrangement as the result of a cytogenetically cryptic PCM1::PDGFRB fusion. After years of fatigue and blood count abnormalities including leukocytosis and eosinophilia, we identified a rare PCM1::PDGFRB fusion by RNA sequencing. Analysis of retrospective bone marrow samples revealed the presence of fusion transcripts up to six years prior to RNA sequencing. Upon identification of PDGFRB rearrangement, treatment was changed to imatinib (100 mg/daily) with immediate effect. After six months of imatinib treatment, the patient achieved clinical remission and a reduction in PCM1::PDGFRB fusion transcripts, and molecular remission was detected 1.5 years after treatment initiation.
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Due et al. (2026) conducted a case report in Myeloid neoplasm with eosinophilia and PDGFRB rearrangement (n=1). Imatinib was evaluated on Clinical and molecular remission. Treatment with low-dose imatinib (100 mg daily) led to rapid hematologic improvement and complete molecular remission at 1.5 years in a patient with a cytogenetically cryptic PCM1::PDGFRB fusion.
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