ZC3H7B-BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change
Language English Country Germany Media print-electronic
Document type Case Reports, Journal Article
PubMed
31938824
DOI
10.1007/s00428-020-02744-5
PII: 10.1007/s00428-020-02744-5
Knihovny.cz E-resources
- Keywords
- BCOR protein, Endometrial stromal, Female, Fusion, Oncogene proteins, Proto-oncogene proteins, RNA-binding proteins, Repressor proteins, Sarcoma, Signet ring cell, ZC3H7B protein,
- MeSH
- Sarcoma, Endometrial Stromal genetics pathology MeSH
- Carcinoma, Signet Ring Cell diagnosis pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Biomarkers, Tumor genetics MeSH
- Uterine Neoplasms pathology MeSH
- Endometrial Neoplasms genetics pathology MeSH
- RNA-Binding Proteins metabolism MeSH
- Proto-Oncogene Mas MeSH
- Proto-Oncogene Proteins genetics metabolism MeSH
- Repressor Proteins metabolism MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- BCOR protein, human MeSH Browser
- MAS1 protein, human MeSH Browser
- Biomarkers, Tumor MeSH
- RNA-Binding Proteins MeSH
- Proto-Oncogene Mas MeSH
- Proto-Oncogene Proteins MeSH
- Repressor Proteins MeSH
- ZC3H7B protein, human MeSH Browser
We report on 51-year-old woman who presented with brown discharge and postcoital bleeding due to myoma nascens-like polypoid mass distending cervical canal. Histologically, the tumor consisted of high-grade spindle cell component with up to 15 mitotic figures per 10 HPF and also low-grade leiomyoma-like areas with focal myxoid change and so far undescribed cytoplasmic signet ring cell change. Immunohistochemically Desmin, actin, and h-caldesmon were negative. Conversely, BCOR positive expression was coupled with Cyclin D1 positivity and was antibody clone dependent. The molecular NGS and FISH study identified reciprocal fusion gene ZC3H7B-BCOR. In conclusion, these findings further support the idea of routine reflex molecular testing of uterine mesenchymal tumors with unusual clinical presentation or in case malignancy is suspected. Lastly, we suggest ZC3H7B-BCOR rearranged high-grade endometrial stromal sarcoma might be considered as a tumor suitable for BCL6-targeted treatment.
Bioptická laboratoř s r o Pilsen Czech Republic
Department of Pathology Slovak Medical University in Bratislava Bratislava Slovak Republic
Department of Pathology University of British Columbia Royal Columbian Hospital Vancouver BC Canada
See more in PubMed
Virchows Arch. 2018 Nov;473(5):583-590 PubMed
Genes Chromosomes Cancer. 2013 Jul;52(7):610-8 PubMed
Am J Surg Pathol. 2017 Jan;41(1):12-24 PubMed
Mod Pathol. 2018 Apr;31(4):674-684 PubMed
Virchows Arch. 2018 Dec;473(6):665-678 PubMed
Genes Dev. 2000 Jul 15;14(14):1810-23 PubMed
Am J Surg Pathol. 2019 May;43(5):662-669 PubMed
Pathology. 2018 Feb;50(2):162-177 PubMed
Int J Gynecol Pathol. 2019 Sep;38(5):420-425 PubMed
Expert Opin Ther Targets. 2018 Feb;22(2):143-152 PubMed
