Perivascular epithelioid cell tumors of the urinary bladder: a multi-institutional clinicopathologic and molecular analysis of 21 cases
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View abstract on PubMed
Summary
This summary is machine-generated.Perivascular epithelioid cell tumors (PEComas) in the bladder are rare. TFE3-rearranged PEComas demonstrate a higher risk of metastasis compared to TSC/MTOR-mutated tumors, informing prognosis.
Area Of Science
- Uropathology
- Oncology
- Molecular Pathology
Background
- Perivascular epithelioid cell tumors (PEComas) are uncommon neoplasms that can occur in various organs.
- Bladder PEComas are particularly rare, with limited data on their clinicopathologic and molecular features.
- Understanding the factors associated with aggressive behavior is crucial for patient management.
Purpose Of The Study
- To investigate the clinicopathologic and molecular characteristics of bladder PEComas.
- To identify morphological and molecular features associated with metastatic potential.
- To evaluate the prognostic significance of TFE3 rearrangements and mTOR pathway mutations.
Main Methods
- Retrospective analysis of 21 bladder PEComa cases.
- Morphological assessment including mitotic count, atypical mitoses, necrosis, cellular atypia, and vascular invasion.
- Biomarker analysis (p16, p53, TRIM63 ISH, ATRX, RB1).
- Next-generation sequencing (NGS) for comprehensive molecular profiling, including TFE3 rearrangements and mTOR pathway mutations.
Main Results
- Metastasis was associated with high mitotic activity (≥2/10 HPF), atypical mitoses, and necrosis.
- TRIM63 ISH showed high sensitivity but poor specificity for TFE3 rearrangements.
- NGS identified TFE3 fusions (SFPQ::TFE3, NONO::TFE3) in 47% of cases and mTOR pathway mutations (TSC1/2, MTOR) in 53% of cases.
- TFE3-rearranged PEComas showed a significantly higher risk of metastasis (OR=8.75) compared to TSC/MTOR-mutated tumors (OR=0.11).
- Co-mutations involving p53 were noted in two tumors.
Conclusions
- Morphological features like high mitotic rate and necrosis are indicators of aggressive behavior in bladder PEComas.
- TFE3 rearrangements are a significant molecular driver associated with a higher propensity for metastasis.
- mTOR pathway mutations, particularly TSC/MTOR, may be associated with a lower risk of metastasis.
- Molecular profiling, especially identifying TFE3 fusions, is important for prognostic stratification and guiding targeted therapies for bladder PEComas.
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