Epithelioid leiomyosarcoma of broad ligament harboring PGR-NR4A3 and UBR5-PGR gene fusions: a unique case report
| Autor: | Xiaoyan Zhou, Shaoxian Tang, Wentao Yang, Qianlan Yao, Huayan Ren, Hong Lv, Li Yimin |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Leiomyosarcoma Receptors Steroid endocrine system Pathology medicine.medical_specialty Ubiquitin-Protein Ligases Broad Ligament Biology Pathology and Forensic Medicine Fusion gene Biomarkers Tumor medicine Humans skin and connective tissue diseases Molecular Biology Smooth Muscle Tumor Hyaline Gene Rearrangement Receptors Thyroid Hormone Cell Biology General Medicine medicine.disease Staining DNA-Binding Proteins Immunohistochemistry Female Desmin Gene Fusion Epithelioid cell hormones hormone substitutes and hormone antagonists |
| Zdroj: | Virchows Archiv. 480:933-938 |
| ISSN: | 1432-2307 0945-6317 |
| Popis: | A novel molecular subset of epithelioid leiomyosarcomas with rhabdoid features harboring PGR gene rearrangements has recently been documented. Herein, we present a unique case of PGR-rearranged smooth muscle tumor with both PGR-NR4A3 and UBR5-PGR gene fusions reported in a 30-year-old woman who had a mass in the broad ligament. The histological examination showed a round/polygonal to spindle cell tumor with abundant myxoid matrix and focal hyalinization, resulting in an epithelioid pattern. Immunohistochemical examination revealed that the tumor had variable staining for desmin, SMA, and h-caldesmon and diffuse nuclear staining of ER, PR, and WT1. Furthermore, targeted RNA sequencing analysis revealed PGR-NR4A3 and UBR5-PGR gene fusions. Our case in addition with the reported cases suggest that myxoid matrix with two types of tumor cells (round/polygonal epithelioid cells and spindle cells) may be significant for the diagnosis of PGR-NR4A3 fusion-positive leiomyosarcoma. UBR5-PGR gene fusion is a novel finding in epithelioid leiomyosarcoma. |
| Databáze: | OpenAIRE |
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