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ZC3H7B–BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change

Abstract

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.

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Author information

Authors MM, NP, and OO conceived, designed, wrote, and edited the study. RA wrote and edited the study. Author NP, VH, and PŠ performed molecular–genetic studies and wrote respective part of the manuscript. Authors BB, JB, JP, and HŠ researched the subject, curated, and analyzed the data. All authors gave final approval for publication. Author OO takes full responsibility for the work as a whole, including the study design, access to data, and the decision to submit and publish the manuscript.

Correspondence to Ondrej Ondič.

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Ondič, O., Bednářová, B., Ptáková, N. et al. ZC3H7B–BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change. Virchows Arch (2020). https://doi.org/10.1007/s00428-020-02744-5

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Keywords

  • Female
  • Sarcoma
  • Endometrial stromal
  • Fusion
  • ZC3H7B protein
  • BCOR protein
  • Repressor proteins
  • Oncogene proteins
  • Proto-oncogene proteins
  • RNA-binding proteins
  • Signet ring cell