Clinical Report: Myeloid Neoplasm Characterized by CCDC88C::PDGFRB Rearrangement

Overview

This case study describes a 60-year-old male with a myeloid neoplasm characterized by a CCDC88C::PDGFRB rearrangement and predominant neutrophilia. Treatment with low-dose imatinib resulted in normalization of leukocyte levels.

Background

Myeloid/lymphoid neoplasms with PDGFRB rearrangements are rare and often present with eosinophilia. Accurate diagnosis is crucial as these neoplasms are sensitive to tyrosine kinase inhibitors like imatinib.

Data Highlights

No numerical data or trial data provided in the source material.

Key Findings

• A 60-year-old male presented with leukocytosis and thrombocytopenia.
• Bone marrow examination showed significant granulocytic proliferation without increased blasts.
• Peripheral blood analysis revealed predominant neutrophilia and slight eosinophilia.
• Cytogenetic evaluation identified a t(5;14) translocation.
• RNA sequencing revealed a CCDC88C::PDGFRB fusion and an ATM frameshift mutation.
• Low-dose imatinib treatment led to rapid normalization of leukocyte levels within one week.

Clinical Implications

This case highlights the importance of molecular profiling in diagnosing atypical myeloid neoplasms.

Conclusion

The findings from this case expand the understanding of CCDC88C::PDGFRB-rearranged neoplasms.

Related Resources & Content

1. Blood Cancer Journal, 2021 -- Comprehensive genomic profiling identifies a novel TNKS2–PDGFRA fusion that defines a myeloid neoplasm with eosinophilia that responded dramatically to imatinib therapy
2. Blood Cancer Journal, 2022 -- Molecular Profiling Reveals Two Distinct Subtypes of Blastic Plasmacytoid Dendritic Cell Neoplasm with Unique Clinical Features
3. Acta Neuropathologica, 2022 -- Creation of Patient-Derived Models from a Metastatic Pediatric Diffuse Leptomeningeal Glioneuronal Tumor Featuring KIAA1549::BRAF Fusion
4. Blood Cancer Journal, 2023 -- Multi-Omics Analysis of Three Hematological Cancers in a Patient Identifies Their Origin from Clonal Hematopoietic Stem Cells
5. How I diagnose and treat myeloid/lymphoid neoplasms with tyrosine kinase gene fusions - PubMed
6. Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes, Version 3.2021, NCCN Clinical Practice Guidelines in Oncology - PubMed
7. How I diagnose and treat myeloid/lymphoid neoplasms with tyrosine kinase gene fusions - PubMed
8. Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes, Version 3.2021, NCCN Clinical Practice Guidelines in Oncology - PubMed