Investigator
Cleveland Clinic
Primary Uterine Angiosarcoma Presenting With Omental Metastasis, Lymph Node Involvement, and Demonstrating a Null p53 Mutational Staining Pattern
In this report, we present a 51-year-old woman with months of heavy vaginal discharge, pain, nausea, and vomiting. Magnetic resonance imaging showed a large necrotic mass expanding the uterus with extension through the myometrium. Initial biopsy showed a malignant spindle cell neoplasm with high mitotic activity and necrosis. Immunohistochemistry (IHC) suggested a high-grade sarcoma, and further surgical resection confirmed a diagnosis of primary uterine angiosarcoma with positive ERG and CD31. Whole exome and whole transcriptome sequencing revealed pathogenic variants for CDKN2A (p.W110*; c.330G > A) and TP53 (c.782 + 1G > T; c.782 + 1G > T). Unfortunately, despite aggressive surgical management, the patient experienced rapid progression and succumbed to her disease within 5 months. Primary uterine angiosarcomas are exceedingly rare and clinically aggressive mesenchymal malignancies, with fewer than 30 tumors reported in the English literature. This report highlights the diagnostic challenges posed by primary uterine angiosarcomas, particularly due to their nonspecific high-grade morphology and focal vascular features. A broad IHC panel and molecular analysis can aid in accurate diagnosis.
