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Myeloid Neoplasm with PDGFRA Rearrangement Manifesting as a Retromolar Pad Mass
Amy S Duffield1,2,3, Jonathan Webster2, B Douglas Smith2
1Division of Hematologic Pathology, Department of Pathology, The Johns Hopkins University School of Medicine, 401 N Broadway, Pathology Weinberg Bldg Suite 2242, Baltimore, MD, 21231, USA.
Abstract:
Myeloid neoplasms with PDGFRA rearrangement are rare, and most commonly present with features of chronic eosinophilic leukemia; however, they rarely manifest as acute myeloid or lymphoblastic leukemia. Patients typically present with symptoms of hypereosinophilia including cardiovascular and pulmonary symptoms. An increase in mast cells is also a common feature of this disease, and there may be elevated serum tryptase with significant clinical overlap with systemic mastocytosis. Here, we present an unusual case of a myeloid neoplasm with PDGFRA rearrangement manifesting as a retromolar pad mass in a patient with a prior diagnosis of systemic mastocytosis. This case highlights the possibility of soft tissue involvement by myeloid neoplasms with PDGFRA rearrangement in the oral cavity. The identification of this entity is of significant clinical importance because many patients can be effectively treated with tyrosine kinase inhibitors.
Insights
Myeloid neoplasms with PDGFRA rearrangement are rare. This unusual case highlights oral cavity soft tissue involvement, important for effective tyrosine kinase inhibitor treatment.
Area of Science:
- Hematology
- Oncology
- Molecular Pathology
Background:
- Myeloid neoplasms with PDGFRA rearrangement are uncommon hematologic malignancies.
- These neoplasms often present as chronic eosinophilic leukemia, but can rarely manifest as acute leukemia.
- Clinical overlap with systemic mastocytosis is noted due to increased mast cells and elevated serum tryptase.
Observation:
- A rare case of myeloid neoplasm with PDGFRA rearrangement presented as a retromolar pad mass.
- The patient had a preceding diagnosis of systemic mastocytosis.
- This presentation suggests potential soft tissue involvement in the oral cavity.
Findings:
- The study identified an unusual manifestation of myeloid neoplasms with PDGFRA rearrangement.
- This case underscores the potential for oral soft tissue involvement in these rare myeloid disorders.
- The findings emphasize the diagnostic importance of considering PDGFRA-rearranged myeloid neoplasms in diverse clinical settings.
Implications:
- Early identification of PDGFRA-rearranged myeloid neoplasms is crucial for appropriate management.
- Treatment with tyrosine kinase inhibitors can be highly effective for many patients.
- This case broadens the understanding of the clinical spectrum and potential sites of involvement for PDGFRA-rearranged myeloid neoplasms.
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