Retroperitoneal Schwannoma with a Novel PRCC::TFE3 Fusion: Expanding the Spectrum of Schwannomas with a TFE3 Gene Rearrangement.
Kyle D Perry, Rohit Mehra, Ann Leathersich et al.
✦ AI-curated · Sources linked
Case in brief
A patient presented with a large retroperitoneal schwannoma characterized by a PRCC::TFE3 fusion. Histological examination revealed large epithelioid cells with granular cytoplasm, alongside degenerative features typical of schwannomas. The tumor was confirmed to be of Schwann cell differentiation through methylation profiling. After complete surgical resection, the patient has had no recurrence.
What made this case unusual
The presence of a PRCC::TFE3 fusion in a schwannoma is noteworthy, as this fusion is typically associated with more aggressive neoplasms like renal cell carcinoma.
Diagnostic / clinical pearl
Clinicians should be aware that schwannomas can exhibit atypical fusions, such as PRCC::TFE3, which may lead to misdiagnosis as more aggressive tumors.
Why it matters
Recognizing this rare schwannoma subtype is crucial for accurate diagnosis and management, preventing potential misclassification with aggressive neoplasms.