BCOR Internal Tandem Duplication Associated Uterine Sarcoma: Expanding the Clinicopathologic Spectrum
| Autor: | Sakinah A. Thiryayi, Emily A. Goebel, Gulisa Turashvili, Helen C. Ettler, Denise Yee, Justin Mayers, Andy Kin On Wong, Tara A. Paton, Michel Prefontaine, Jordan Lerner-Ellis, Evangeline Agro |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty Necrosis Adolescent Sarcoma Endometrial Stromal Pathology and Forensic Medicine law.invention symbols.namesake Cyclin D1 law Proto-Oncogene Proteins Biomarkers Tumor Medicine Humans Polymerase chain reaction Sanger sequencing Endometrial stromal sarcoma Uterine sarcoma business.industry Obstetrics and Gynecology medicine.disease Endometrial Neoplasms Repressor Proteins Uterine Neoplasms symbols Immunohistochemistry Desmin Female medicine.symptom business |
| Zdroj: | International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists. 41(5) |
| ISSN: | 1538-7151 |
| Popis: | The diagnosis of high-grade endometrial stromal sarcoma has become more refined following molecular characterization of these tumors. Recently BCOR internal tandem duplications (ITD) have been identified in a small number of high-grade endometrial stromal sarcoma. Here we present an additional case of this rare entity in a young woman in her late teens. She presented with menorrhagia and underwent resection of 2 uterine lesions. The tumor was a spindle cell neoplasm composed of long fascicles with low to moderate cellularity, mild to moderate cytologic atypia, and up to 2 mitotic figures per 10 high power fields. Necrosis was not identified. Immunohistochemical stains showed the tumor to be positive for cyclin D1 in >50% of tumor cells, focally positive for CD10, and negative for SMA, desmin, h-caldesmon, and ALK1. BCOR ITD was confirmed by polymerase chain reaction with subsequent Sanger sequencing. Clues to the diagnosis of BCOR ITD uterine sarcoma include young patient age, uniform nuclear features, and diffuse positivity for cyclin D1. These features should prompt further molecular interrogation for definitive diagnosis, which is important for prognostication. |
| Databáze: | OpenAIRE |
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