ArticleProceedings of the National Academy of Sciences of the United States of America2021
Integrated mutational landscape analysis of uterine leiomyosarcomas.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Molecular Insights in Uterine Leiomyosarcoma: A Systematic Review.International journal of molecular sciences · 2022Pooled it
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Therapeutic Vulnerabilities of the Key Genetic Drivers in Leiomyosarcoma.Medical sciences (Basel, Switzerland) · 2026Review
- Comparative Analysis of Cyclin E1 Expression in Uterine Leiomyosarcomas and Leiomyomas.Diseases (Basel, Switzerland) · 2026Article
- Rescuing a refractory Leiomyosarcoma: ALK-DCTN1 fusion as a gateway to long-term control with Ceritinib.Gynecologic oncology reports · 2026Article
- Chemical neighborhood exploration for substrate discovery in biocatalysis.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Epigenetic Regulation of Uterine Smooth Muscle Tumors: Histone Modifications in Uterine Fibroids and Leiomyosarcoma.Biology · 2026Review
- Spatially-Resolved Multiomic Atlas of Leiomyosarcoma Identifies Two Clinically Relevant Epigenetically-Driven Cell States.bioRxiv : the preprint server for biology · 2026Article
- Integrated mutational landscape analysis of endometrial stromal sarcoma.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The Evolving Molecular Landscape of Uterine Mesenchymal Tumors: Diagnostic and Therapeutic Implications.Cancers · 2025Review
- Article
- MicroRNAs in Uterine Leiomyosarcoma: From Molecular Mechanisms to Clinical Applications.International journal of molecular sciences · 2025Review
- Genomic Profiling of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations.Translational vision science & technology · 2025Article
- Exploring the Evolution of Leiomyomatosis Peritonealis Disseminata: A Longitudinal Study on Malignant Transformation and Potential Biomarkers.Clinical medicine & research · 2025Article
- Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.BJC reports · 2025Article
- Tissue-Specific Genomic Evolution Despite Shared MED12 Mutations in Benign Tumors.Journal of clinical medicine · 2025Article
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- Therapeutic Targeting of BET Proteins in Sarcoma.Molecular cancer therapeutics · 2025Review
- UPLC-Q-TOF/MS, network pharmacology, molecular docking, and experimental validation to explore the mechanisms of toad clothing on rheumatoid arthritis.Scientific reports · 2025Article
- Review
10 more citing papers are in PubMed but not listed here.
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Authors and funding
44 authors at 11 institutions in 3 countries.
Funding
Abstract
Uterine leiomyosarcomas (uLMS) are aggressive tumors arising from the smooth muscle layer of the uterus. We analyzed 83 uLMS sample genetics, including 56 from Yale and 27 from The Cancer Genome Atlas (TCGA). Among them, a total of 55 Yale samples including two patient-derived xenografts (PDXs) and 27 TCGA samples have whole-exome sequencing (WES) data; 10 Yale and 27 TCGA samples have RNA-sequencing (RNA-Seq) data; and 11 Yale and 10 TCGA samples have whole-genome sequencing (WGS) data. We found recurrent somatic mutations in TP53, MED12, and PTEN genes. Top somatic mutated genes included TP53, ATRX, PTEN, and MEN1 genes. Somatic copy number variation (CNV) analysis identified 8 copy-number gains, including 5p15.33 (TERT), 8q24.21 (C-MYC), and 17p11.2 (MYOCD, MAP2K4) amplifications and 29 copy-number losses. Fusions involving tumor suppressors or oncogenes were deetected, with most fusions disrupting RB1, TP53, and ATRX/DAXX, and one fusion (ACTG2-ALK) being potentially targetable. WGS results demonstrated that 76% (16 of 21) of the samples harbored chromoplexy and/or chromothripsis. Clinically actionable mutational signatures of homologous-recombination DNA-repair deficiency (HRD) and microsatellite instability (MSI) were identified in 25% (12 of 48) and 2% (1 of 48) of fresh frozen uLMS, respectively. Finally, we found olaparib (PARPi;
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.