ArticleCancer biology & therapy2020
Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.
Article in Cancer biology & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Incidental Primary Angiomyolipoma of Ovary: A Rare Case Report and Literature Review.Clinical case reports · 2025Article
- mTOR signaling pathway and mTOR inhibitors in cancer: progress and challenges.Cell & bioscience · 2020Review
- Case Report: A Unique Case of Pediatric Central Nervous System Embryonal Tumor Harboring theFrontiers in oncology · 2020Article
- Makorin Ring Finger Protein 1 Inhibits Cell Proliferation in Renal Angiomyolipoma via the ERK/MAPK Signaling Pathway.Kidney diseases (Basel, Switzerland)Article
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
People who suffers renal angiomyolipoma (AML) has a low quality of life. It is widely known that genetic factors including TSC2 mutation contribute to certain populations of renal AML-bearing patients. In this study, we are the first to identify novel TSC2 mutations in one Chinese renal epithelioid AML patient: c.2652C>A; c.2688G>A based on sequencing result from biopsy tissue. These two somatic mutations cause a translational stop of TSC2, which leads to mTORC1 activation. Given the fact that activation of mTORC1 ensures cell growth and survival, we applied its inhibitor, FDA-approved everolimus, to this woman. After months of treatment with everolimus, Computer-Tomography (CT) scan results showed that everolimus successfully reduced tumor growth and distal metastasis and achieved partial response (PR) to everolimu according to Response Evaluation Criteria in Solid Tumors (RECIST version 1.1). Further Blood Routine Examination results showed the concentration of red cell mass, hemoglobin, white blood cell (WBC), platelets and hematocrit (HCT) significantly returned to normal levels indicating patients with these two TSC2 mutations could be effectively treated by everolimus.
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