TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review
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-...
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| Format: | Article |
| Language: | English |
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Springer
2025-07-01
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| Series: | Discover Oncology |
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| Online Access: | https://doi.org/10.1007/s12672-025-03270-z |
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| author | Xiaopeng Suo Ruihan Dong Lingling Zhang Xiaoying Zhang Xiangji Li Mengmeng Xiao |
| author_facet | Xiaopeng Suo Ruihan Dong Lingling Zhang Xiaoying Zhang Xiangji Li Mengmeng Xiao |
| author_sort | Xiaopeng Suo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9ffa9061b7f44e9d8f4d01d96a33b2d9 |
| institution | Kabale University |
| issn | 2730-6011 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Springer |
| record_format | Article |
| series | Discover Oncology |
| spelling | doaj-art-9ffa9061b7f44e9d8f4d01d96a33b2d92025-08-20T03:46:09ZengSpringerDiscover Oncology2730-60112025-07-0116111110.1007/s12672-025-03270-zTSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature reviewXiaopeng Suo0Ruihan Dong1Lingling Zhang2Xiaoying Zhang3Xiangji Li4Mengmeng Xiao5Department of Retroperitoneal Tumor Surgery, Peking University People’s HospitalDepartment of Nursing, The First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and TechnologyDaytime Comprehensive Care Unit, Peking University People’s HospitalDepartment of Pathology, Peking University International HospitalDepartment of Gastroenterology, Beijing Friendship Hospital, State Key Laboratory of Digestive Health, National Clinical Research Center for Digestive Diseases, Beijing Key Laboratory for Precancerous Lesion of Digestive Diseases, Capital Medical UniversityDepartment of Retroperitoneal Tumor Surgery, Peking University People’s HospitalAbstract 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.https://doi.org/10.1007/s12672-025-03270-zPEComamTOR inhibitorEverolimusTSC2 mutationCase report |
| spellingShingle | Xiaopeng Suo Ruihan Dong Lingling Zhang Xiaoying Zhang Xiangji Li Mengmeng Xiao TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review Discover Oncology PEComa mTOR inhibitor Everolimus TSC2 mutation Case report |
| title | TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review |
| title_full | TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review |
| title_fullStr | TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review |
| title_full_unstemmed | TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review |
| title_short | TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review |
| title_sort | tsc2 mutated perivascular epithelioid cell tumor with partial response to mtor inhibition a case report and literature review |
| topic | PEComa mTOR inhibitor Everolimus TSC2 mutation Case report |
| url | https://doi.org/10.1007/s12672-025-03270-z |
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