ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2023
Molecular-Based Immunohistochemical Algorithm for Uterine Leiomyosarcoma Diagnosis.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Clinicopathological correlations and immunohistochemical expression of ATRX and Rb in soft tissue leiomyosarcoma: Insights into tumor features and prognostic stratification.Virchows Archiv : an international journal of pathology · 2026Article
- Extended and Repeated Cytoreductive Surgery in Recurrent Uterine Leiomyosarcoma: A Narrative Review.Cancers · 2026Review
- Postmenopausal Enlargement of a Presumed Leiomyoma Revealing STUMP: A Diagnostic Pitfall with Important Clinical Implications-A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Liquid Biopsy in Uterine Leiomyosarcoma: Current Biomarkers, Emerging Technologies, and Future Perspectives.Current oncology reports · 2026Review
- An Update on Uterine Smooth Muscle Tumors: Is It a Leiomyoma, a STUMP, or a Leiomyosarcoma?Biomedicines · 2026Review
- Recurrent Uterine Smooth Muscle Tumor of Uncertain Malignant Potential in a Postmenopausal Woman After Total Abdominal Hysterectomy With Bilateral Salpingo-Oophorectomy: A Case Report.Case reports in pathology · 2026Article
- The Evolving Molecular Landscape of Uterine Mesenchymal Tumors: Diagnostic and Therapeutic Implications.Cancers · 2025Review
- Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.Diagnostics (Basel, Switzerland) · 2025Article
- Context is key: how diagnostic and prognostic markers are reshaping gynecologic pathology.The journal of pathology. Clinical research · 2025Review
- Epigenetic paradigm of DNA methylation for understanding the pathophysiology, diagnostics, and therapeutics in sarcomas.Epigenomics · 2025Review
- Transcriptome profiling of uterine leiomyosarcomas identifies a leiomyoma-like expression pattern that indicates better survival.BJC reports · 2025Article
- Primary vaginal leiomyosarcoma: A case report emphasizing multidisciplinary care of a rare entity.Radiology case reports · 2025Article
- Review
- OncoImmune machine-learning model predicts immune response and prognosis in leiomyosarcoma.Biomolecules & biomedicine · 2025Article
- Towards a greater understanding of uterine sarcomas.Case reports in women's health · 2025Article
- Genomic characterization and histologic analysis of uterine leiomyosarcoma arising from leiomyoma with bizarre nuclei.The Journal of pathology · 2025Article
- Validation of biomarkers and clinical scores for the detection of uterine leiomyosarcoma: a case-control study with an update of pLMS.BMC cancer · 2025Article
- Integrated single-cell and bulk RNA-seq analysis reveals prognostic stemness genes in leiomyosarcoma.Frontiers in oncology · 2025Article
- Leiomyogenic Tumor of the Spine: A Systematic Review.Cancers · 2024Review
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9 authors at 2 institutions in 1 country.
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Abstract
The morphologic assessment of uterine leiomyosarcoma (LMS) may be challenging, and diagnostic immunohistochemical (IHC) analysis is currently lacking. We evaluated the genomic landscape of 167 uterine LMS by targeted next-generation sequencing (NGS) to identify common genomic alterations. IHC analyses corresponding to these genomic landmarks were applied to a test cohort of 16 uterine LMS, 6 smooth muscle tumors of uncertain malignant potential (STUMP), and 6 leiomyomas with NGS data and a validation cohort of 8 uterine LMS, 12 STUMP, 21 leiomyomas and leiomyoma variants, 7 low-grade endometrial stromal sarcomas, and 2 diagnostically challenging uterine smooth muscle tumors. IHC results were individually interpreted by 3 pathologists blinded to NGS data. Overall, 94% of LMS showed ≥1 genomic alteration involving TP53, RB1, ATRX, PTEN, CDKN2A, or MDM2, with 80% showing alterations in ≥2 of these genes. In the test cohort, an initial panel of p53, Rb, PTEN, and ATRX was applied, followed by a panel of DAXX, MTAP, and MDM2 in cases without abnormalities. Abnormal p53, Rb, PTEN, and ATRX IHC expression was seen in 75%, 88%, 44%, and 38% of LMS, respectively, in the test cohort. Two or more abnormal IHC results among these markers were seen in 81% of LMS. STUMPs demonstrated only 1 IHC abnormality involving these markers. No IHC abnormalities were seen in leiomyomas. In the validation cohort, abnormal p53, Rb, and PTEN IHC results were seen in LMS, whereas rare STUMP or leiomyomas with bizarre nuclei showed IHC abnormalities involving only 1 of the markers. Abnormalities in ≥2 markers were present in both diagnostically challenging smooth muscle tumors, confirming LMS. Concordance was excellent among pathologists in the interpretation of IHC (κ = 0.97) and between IHC and NGS results (κ = 0.941). Uterine LMS exhibit genomic landmark alterations for which IHC surrogates exist, and a diagnostic algorithm involving molecular-based IHC may aid in the evaluation of unusual uterine smooth muscle tumors.
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