Vollständiger Abstract
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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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Publikationsdaten
- Autor:innen
- Shuai He, Jing Yang, Jiguang Yang, Chunxia Li, Juan Shen, Xiaolong Ye, Zuping Liu, Wenhao Shen, Jun Zheng, Yongquan Wang
- Quelle
- Frontiers in Medicine
- Publikation
- 2026-01-01
- Band / Ausgabe
- Nicht angegeben
- Seiten
- Nicht angegeben
- ISSN / ISBN
- 2296-858X
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Zitierfähiger Nachweis
Shuai He, Jing Yang, Jiguang Yang, Chunxia Li, Juan Shen, Xiaolong Ye, Zuping Liu, Wenhao Shen, Jun Zheng, Yongquan Wang (2026). Case Report: Acquired CDKN2A/B deletion and mTOR inhibitor resistance in TSC2-mutant metastatic epithelioid angiomyolipoma. Frontiers in Medicine. https://doi.org/10.3389/fmed.2026.1832914
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