ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- From Epigenetic Dysregulation to Therapeutic Reprogramming in Endometrial Cancer: A State-Response Framework for Treatment Resistance.International journal of molecular sciences · 2026Review
- Multidisciplinary management and molecular characterization of inferior vena cava leiomyosarcoma: a case report.World journal of surgical oncology · 2025Article
- Metastatic endometrial stromal sarcoma with sex cord and neuroendocrine differentiation harboring a complex gene fusion.Diagnostic pathology · 2025Article
- TSC2-mutated perivascular epithelioid cell tumor with partial response to mTOR inhibition: a case report and literature review.Discover oncology · 2025Article
- Malignant perivascular epithelioid cell tumor of the colorectum: Clinicopathological characterization, diagnosis and treatment process of 7 cases.World journal of gastrointestinal oncology · 2025Article
- Uterine mesenchymal tumours harboring the KAT6B/A::KANSL1 gene fusion represent a distinct type of uterine sarcoma based on DNA methylation profiles.Virchows Archiv : an international journal of pathology · 2024Article
- Sarcomas With RAD51B Fusions Are Associated With a Heterogeneous Phenotype.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Article
- Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelicFrontiers in oncology · 2024Article
- Genomic and Transcriptomic Characterization Revealed the High Sensitivity of Targeted Therapy and Immunotherapy in a Subset of Endometrial Stromal Sarcoma.Cancer research and treatment · 2023Article
- Expanding the molecular spectrum of gene fusions in endometrial stromal sarcoma: Novel subunits of the chromatin remodeling complexes PRC2 and NuA4/TIP60 as alternative fusion partners.Genes, chromosomes & cancer · 2023Article
- Case report: Responses to the combination of gemcitabine with sirolimus in two patients withFrontiers in oncology · 2023Article
- Feasibility of Longitudinal ctDNA Assessment in Patients with Uterine and Extra-Uterine Leiomyosarcoma.Cancers · 2022Article
- Melanocytic marker expression and TSC alterations/TFE3 fusions in uterine PEComas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- The Role of mTOR and eIF Signaling in Benign Endometrial Diseases.International journal of molecular sciences · 2022Review
- Massive Malignant Epithelioid Angiomyolipoma of the Kidney.Journal of kidney cancer and VHL · 2022Article
- Case report: Kidney perivascular epithelioid cell tumor treated with anti-VEGFR tyrosine kinase inhibitor and MTOR inhibitor.Frontiers in oncology · 2022Article
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Authors and funding
24 authors at 5 institutions in 3 countries.
Funding
Abstract
Uterine perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm that occasionally shares morphologic and immunohistochemical overlap with low- and high-grade endometrial stromal sarcoma (LGESS and HGESS). In this study, we sought to characterize the clinical, morphologic, genetic, and epigenetic features of five uterine sarcomas that display histologic features of LGESS, HGESS, and PEComa. All tumors demonstrated epithelioid cells often associated with a low-grade spindled component resembling LGESS, with both regions expressing CD10, ER, PR, variable HMB45, and Melan-A immunoreactivity, and strong cathepsin K and pS6 expression. Targeted massively parallel sequencing analysis revealed the presence of somatic TSC2 mutations in all five cases, of which four harbored concurrent or consecutive JAZF1-SUZ12 gene fusions. Unsupervised hierarchical clustering analysis of methylation profiles of TSC2-mutant uterine sarcomas (n = 4), LGESS (n = 10), and HGESS (n = 12) demonstrated two clusters consisting of (1) all LGESS and TSC2-mutant uterine sarcomas and (2) all HGESS. KEGG pathway analysis detected methylation differences in genes involved in PI3K/AKT, calcium, and Rap1 signaling. TSC2-mutant uterine sarcomas were responsive to hormone suppression, and mTOR inhibition demonstrated clinical benefit in four patients with these neoplasms. Our results suggest that these tumors represent histologically distinctive LGESS with TSC2 mutations. TSC2 mutations and JAZF1-SUZ12 fusion may help diagnose these tumors and possibly direct effective treatment.
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