ArticleDiscover oncology2025
TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review.
Article in Discover oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- PEComas: current concepts in diagnosis, molecular pathways, and emerging treatments.The oncologist · 2026Review
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Authors and funding
6 authors.
Funding
Abstract
Perivascular epithelioid cell tumors (PEComas), rare mesenchymal neoplasms with heterogeneous behavior, are molecularly characterized by TSC2 inactivation driving mammalian target of rapamycin (mTOR) pathway activation. We present a typical case of a 63-year-old female with metastatic high-grade PEComa featuring a TSC2 mutation (68.57% VAF) and elevated tumor mutational burden (19.7 mut/Mb), manifesting as peritoneal carcinomatosis and pulmonary metastases. Everolimus therapy following multidisciplinary assessment induced a radiologically confirmed partial response within 4.5 months with sustained clinical benefit. This outcome validates mTOR inhibition in TSC2-mutated PEComas and underscores the imperative of molecular profiling in mesenchymal tumor management. The significant mutational burden suggests potential immunotherapy responsiveness, informing future combination strategies. These findings emphasize molecularly guided precision approaches in rare malignancies and warrant systematic exploration of therapeutic sequencing and resistance mechanisms in mTOR-driven tumors.
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