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August 19, 2026Diagnostic PathologyOpen Access

Low-dose imatinib achieves complete molecular remission at 1.5 years in a PCM1::PDGFRB fusion case.

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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.

Population

1 patient with myeloid neoplasm with eosinophilia and a cryptic PCM1::PDGFRB fusion

Comparison

Imatinib 100 mg/daily

Design

Case report

Follow-up

1.5 years

Key result

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.

Authors

HDHanne DueMJM. JørgensenLGLykke Grubach

Discussion

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Overview

PDGFRB fusion testing may identify TKI-responsive eosinophilic myeloid neoplasms; leaves open optimal diagnostic algorithms.

Key Points

  • To report a case of myeloid neoplasm with eosinophilia caused by a cytogenetically cryptic PCM1::PDGFRB fusion and evaluate its response to targeted tyrosine kinase inhibitor therapy.
  • Utilized RNA sequencing to detect genetic rearrangements in a patient with a multi-year history of fatigue, leukocytosis, and eosinophilia.
  • Retrospectively analyzed bone marrow samples collected up to six years prior to determine fusion transcript presence.
  • Initiated targeted treatment with imatinib at 100 mg daily and tracked clinical and molecular response over 1.5 years.
  • RNA sequencing identified a rare, cytogenetically cryptic PCM1::PDGFRB fusion transcript that was present retrospectively up to six years prior.
  • Daily treatment with 100 mg imatinib prompted rapid clinical improvement, achieving clinical remission at six months and complete molecular remission at 1.5 years.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P
Population
A 56-year-old male with a history of acute promyelocytic leukemia who presented with fatigue, leukocytosis, and hypereosinophilia, ultimately diagnosed with a myeloid neoplasm driven by a cryptic PCM1::PDGFRB fusion.
I
Intervention
Imatinib 100 mg oral daily
O
Outcome
Clinical and molecular remissionsurrogate

RNA sequencing can successfully identify cytogenetically cryptic PDGFRB fusions in myeloid neoplasms, enabling highly effective targeted therapy with imatinib.

Limitations

  • Conventional karyotyping and targeted sequencing failed to identify the submicroscopic rearrangement.
  • PDGFRB break-apart FISH assay was not performed initially, which might have facilitated earlier detection.

Cite This Study

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.

synapsesocial.com/papers/6a8563ae03308d306e2d703ehttps://doi.org/10.1186/s13000-026-01839-y
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