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Published on: August 19, 2021
High-grade Endometrial Stromal Sarcoma With a Novel ING3::BCOR Fusion.
1Department of Pathology and Laboratory Medicine, University of Southern California, Keck School of Medicine,/Los Angeles General Medical Center, Los Angeles, California.
Summary
High-grade endometrial stromal sarcoma (HGESS) is a rare cancer. Researchers identified a novel ING3::BCOR fusion in a HGESS case, highlighting BCOR gene alterations in this evolving tumor group.
Area of Science:
- Gynecologic Oncology
- Cancer Genetics
- Pathology
Background:
- High-grade endometrial stromal sarcoma (HGESS) is a rare gynecologic malignancy.
- HGESS exhibits diverse morphology and accumulating molecular alterations, notably YWHAE::NUTM2 fusions and BCOR gene alterations.
- Understanding these genetic drivers is crucial for accurate diagnosis and classification.
Purpose of the Study:
- To report a novel ING3::BCOR fusion in a case of high-grade endometrial stromal sarcoma.
- To characterize the histopathologic and molecular features of this specific HGESS subtype.
- To contribute to the growing understanding of genetic alterations in HGESS.
Main Methods:
- Histopathologic examination using Hematoxylin & Eosin (H&E) staining.
- Immunohistochemistry (IHC) for markers including CD10, cyclin D1, ER, PR, ALK1, S100, HMB45, CD34, and p53.
- RNA-based next-generation sequencing (NGS) for molecular profiling.
Main Results:
- A 74-year-old female presented with vaginal bleeding, diagnosed with HGESS.
- Histology showed spindle cell proliferation with mild-to-moderate atypia, mitotic activity, myxoid changes, necrosis, and pleomorphism.
- Immunohistochemistry revealed CD10 and diffuse cyclin D1 positivity, with negative hormone receptors and wild-type p53.
- RNA-based NGS identified a novel ING3::BCOR fusion.
Conclusions:
- The ING3::BCOR fusion represents a newly identified genetic alteration in HGESS.
- HGESS with BCOR fusion should be suspected in tumors with specific morphologic and IHC features (spindle cells, myxoid stroma, cyclin D1 positivity, negative hormone receptors).
- Integrated diagnostic approaches combining histopathology, IHC, and molecular testing are essential for accurate HGESS diagnosis.