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

  • Ondrej OndičEmail author
  • Barbora Bednářová
  • Nikola Ptáková
  • Veronika Hájková
  • Petr Šteiner
  • Henrieta Šidlová
  • Jiří Presl
  • Jiří Bouda
  • Reza Alaghehbandan
  • Michal Michal
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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.

Keywords

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

Notes

Author’s contribution

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.

Compliance with ethical standards

Ethical approval

The study complies with hospital ethical standards.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

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Online Resource 1 (PDF 132 kb)
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References

  1. 1.
    Panagopoulos I, Thorsen J, Gorunova L, Haugom L, Bjerkehagen B, Davidson B, Heim S, Micci F (2013) Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation. Genes Chromosomes Cancer 52:610–618.  https://doi.org/10.1002/gcc.22057 CrossRefPubMedGoogle Scholar
  2. 2.
    Hoang LN, Aneja A, Conlon N, Delair DF, Middha S, Benayed R, Hensley ML, Park KJ, Hollmann TJ, Hameed MR, Antonescu CR, Soslow RA, Chiang S (2017) Novel high-grade endometrial stromal sarcoma: a morphologic mimicker of myxoid leiomyosarcoma. Am J Surg Pathol 41:12–24CrossRefGoogle Scholar
  3. 3.
    Ferreira J, Félix A, Lennerz JK, Oliva E (2018) Recent advances in the histological and molecular classification of endometrial stromal neoplasms. Virchows Arch 473:665–678.  https://doi.org/10.1007/s00428-018-2470-6 CrossRefPubMedGoogle Scholar
  4. 4.
    Lewis N, Soslow RA, Delair DF, Park KJ, Murali R, Hollmann TJ, Davidson B, Micci F, Panagopoulos I, Hoang LN, Arias-Stella JA 3rd, Oliva E, Young RH, Hensley ML, Leitao MM Jr, Hameed M, Benayed R, Ladanyi M, Frosina D, Jungbluth AA, Antonescu CR, Chiang S (2018) ZC3H7B-BCOR high-grade endometrial stromal sarcomas: a report of 17 cases of a newly defined entity. Mod Pathol 31:674–684.  https://doi.org/10.1038/modpathol.2017.162 CrossRefPubMedGoogle Scholar
  5. 5.
    Nagaputra JC, Chin Hong Goh R, Hong Kuick C, Tou En Chang K, Sittampalam K (2019) ZC3H7B-BCOR high-grade endometrial stromal sarcoma with osseous metaplasia: unique feature in a recently defined entity. Human Pathology: Case Reports 15:54–58.  https://doi.org/10.1016/j.ehpc.2018.11.002 CrossRefGoogle Scholar
  6. 6.
    Mansor S, Kuick CH, Lim SL, Quek R, Wong APC, Lim-Tan SK, Lim TYK, Chang KTE (2018) ZC3H7B-BCOR-rearranged endometrial stromal sarcomas: a distinct subset merits its own classification? Int J Gynecol Pathol.  https://doi.org/10.1097/PGP.0000000000000523 [Epub ahead of print]CrossRefGoogle Scholar
  7. 7.
    Ptáková N, Miesbauerová M, Kosťun J, Grossmann P, Šidlová H, Pavelka J, Presl J, Alaghehbandan R, Bouda J, Ondič O (2018) Immunohistochemical and selected genetic reflex testing of all uterine leiomyosarcomas and STUMPs for ALK gene rearrangement may provide an effective screening tool in identifying uterine ALK-rearranged mesenchymal tumors. Virchows Arch 473(5):583–590.  https://doi.org/10.1007/s00428-018-2428-8 CrossRefPubMedGoogle Scholar
  8. 8.
    Hoang L, Chiang S, Lee CH (2018) Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations. Pathology 50(2):162–177.  https://doi.org/10.1016/j.pathol.2017.11.086 CrossRefPubMedGoogle Scholar
  9. 9.
    Cotzia P, Benayed R, Mullaney K, Oliva E, Felix A, Ferreira J, Soslow RA, Antonescu CR, Ladanyi M, Chiang S (2019) Undifferentiated uterine sarcomas represent under-recognized high-grade endometrial stromal sarcomas. Am J Surg Pathol 43(5):662–669.  https://doi.org/10.1097/PAS.0000000000001215 CrossRefPubMedGoogle Scholar
  10. 10.
    Leeman-Neill RJ, Bhagat G (2018) BCL6 as a therapeutic target for lymphoma. Expert Opin TherTargets 22(2):143–152.  https://doi.org/10.1080/14728222.2018.1420782 CrossRefGoogle Scholar
  11. 11.
    Huynh KD, Fischle W, Verdin E, Bardwell VJ (2000) BCoR, a novel corepressor involved in BCL-6 repression. Genes Dev 14(14):1810–1823PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  • Ondrej Ondič
    • 1
    • 2
    Email author
  • Barbora Bednářová
    • 3
  • Nikola Ptáková
    • 2
  • Veronika Hájková
    • 2
  • Petr Šteiner
    • 2
  • Henrieta Šidlová
    • 4
  • Jiří Presl
    • 3
  • Jiří Bouda
    • 3
  • Reza Alaghehbandan
    • 5
  • Michal Michal
    • 1
  1. 1.Department of Pathology, Medical Faculty PilsenCharles University and Charles University Hospital PilsenPilsenCzech Republic
  2. 2.Bioptická laboratoř, s.r.oPilsenCzech Republic
  3. 3.Department of Gynecology and Obstetrics, Medical Faculty PilsenCharles University and Charles University Hospital PilsenPilsenCzech Republic
  4. 4.Department of PathologySlovak Medical University in BratislavaBratislavaSlovak Republic
  5. 5.Department of PathologyUniversity of British Columbia, Royal Columbian HospitalVancouverCanada

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