ArticleFrontiers in medicine2026
Case Report: Acquired CDKN2A/B deletion and mTOR inhibitor resistance in TSC2-mutant metastatic epithelioid angiomyolipoma.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Acquired resistance to mTOR inhibition remains a major challenge in TSC2-mutant metastatic epithelioid angiomyolipoma (EAML). We report a 30-year-old woman with metastatic EAML harboring biallelic TSC2 mutations who achieved a complete response to everolimus but developed disease progression after 16 months. Tumor rebiopsy revealed persistent TSC2 mutations and acquired CDKN2A/B deletion, accompanied by increased Ki-67 and emergence of TFE-3 immunoreactivity and focal S-100 positivity. These findings suggest a potential association between CDKN2A/B loss and aggressive tumor behavior after mTOR inhibition, although causality remains unproven. CDK4/6-targeted strategies may warrant further investigation in this context.
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