ZC3H7B-BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
31938824
DOI
10.1007/s00428-020-02744-5
PII: 10.1007/s00428-020-02744-5
Knihovny.cz E-zdroje
- Klíčová slova
- BCOR protein, Endometrial stromal, Female, Fusion, Oncogene proteins, Proto-oncogene proteins, RNA-binding proteins, Repressor proteins, Sarcoma, Signet ring cell, ZC3H7B protein,
- MeSH
- endometriální stromální sarkom genetika patologie MeSH
- karcinom z prstenčitých buněk diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory dělohy patologie MeSH
- nádory endometria genetika patologie MeSH
- proteiny vázající RNA metabolismus MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny genetika metabolismus MeSH
- represorové proteiny metabolismus MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- BCOR protein, human MeSH Prohlížeč
- MAS1 protein, human MeSH Prohlížeč
- nádorové biomarkery MeSH
- proteiny vázající RNA MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny MeSH
- represorové proteiny MeSH
- ZC3H7B protein, human MeSH Prohlížeč
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
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