ZC3H7B–BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change
- 29 Downloads
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.
KeywordsFemale Sarcoma Endometrial stromal Fusion ZC3H7B protein BCOR protein Repressor proteins Oncogene proteins Proto-oncogene proteins RNA-binding proteins Signet ring cell
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
The study complies with hospital ethical standards.
Conflict of interest
The authors declare that they have no conflict of interest.
- 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.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
- 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
- 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