Skip to main content

Advertisement

SpringerLink
Log in

Epithelioid leiomyosarcoma of broad ligament harboring PGR-NR4A3 and UBR5-PGR gene fusions: a unique case report

  • Brief Report
  • Published:
Virchows Archiv Aims and scope Submit manuscript

Abstract

A novel molecular subset of epithelioid leiomyosarcomas with rhabdoid features harboring PGR gene rearrangements has recently been documented. Herein, we present a unique case of PGR-rearranged smooth muscle tumor with both PGR-NR4A3 and UBR5-PGR gene fusions reported in a 30-year-old woman who had a mass in the broad ligament. The histological examination showed a round/polygonal to spindle cell tumor with abundant myxoid matrix and focal hyalinization, resulting in an epithelioid pattern. Immunohistochemical examination revealed that the tumor had variable staining for desmin, SMA, and h-caldesmon and diffuse nuclear staining of ER, PR, and WT1. Furthermore, targeted RNA sequencing analysis revealed PGR-NR4A3 and UBR5-PGR gene fusions. Our case in addition with the reported cases suggest that myxoid matrix with two types of tumor cells (round/polygonal epithelioid cells and spindle cells) may be significant for the diagnosis of PGR-NR4A3 fusion-positive leiomyosarcoma. UBR5-PGR gene fusion is a novel finding in epithelioid leiomyosarcoma.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Data availability

Available.

Code availability

Not applicable.

References

  1. Chiang S, Samore W, Zhang L et al (2019) PGR Gene fusions identify a molecular subset of uterine epithelioid leiomyosarcoma with rhabdoid features. Am J Surg Pathol 43:810–818

    Article  PubMed  PubMed Central  Google Scholar 

  2. Haas BJ, Dobin A, Li B et al (2019) Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods. Genome Biol 20:213

    Article  PubMed  PubMed Central  Google Scholar 

  3. Haller F, Bieg M, Will R et al (2019) Enhancer hijacking activates oncogenic transcription factor NR4A3 in acinic cell carcinomas of the salivary glands. Nat Commun 10:368

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Haller F, Skálová A, Ihrler S et al (2019) Nuclear NR4A3 immunostaining is a specific and sensitive novel marker for acinic cell carcinoma of the salivary glands. Am J Surg Pathol 43:1264–1272

    Article  PubMed  Google Scholar 

  5. Vargas AC, Maclean FM, Bonar F et al (2019) NR4A3 Immunohistochemistry lacks sensitivity for the diagnosis of extraskeletal myxoid chondrosarcoma. Am J Surg Pathol 43:1726–1728

    Article  PubMed  Google Scholar 

  6. Horvai AE, Agaram NP, Lucas DR (2020) World Health Organization (WHO) Classification of Soft Tissue and Bone Tumours, 5th ed. International Agency for Research on Cancer (IARC), Lyon: Extraskeletal myxoid condrosarcoma, p 303–305

  7. Callaghan MJ, Russell AJ, Woollatt E et al (1998) Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. Oncogene 17:3479–3491

    Article  CAS  PubMed  Google Scholar 

  8. Liao L, Song M, Li X et al (2017) E3 Ubiquitin ligase UBR5 drives the growth and metastasis of triple-negative breast cancer. Cancer Res 77:2090–2101

    Article  CAS  PubMed  Google Scholar 

  9. Ding F, Zhu X, Song X et al (2020) UBR5 oncogene as an indicator of poor prognosis in gastric cancer. Exp Ther Med 20:7

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Saurabh K, Shah PP, Doll MA et al (2020) UBR-box containing protein, UBR5, is over-expressed in human lung adenocarcinoma and is a potential therapeutic target. BMC Cancer 20:824

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Author notes

  1. Dr. Ren and Dr. Li contributed equally to this work.

Authors and Affiliations

  1. Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, People’s Republic of China

    Huayan Ren, Yimin Li, Qianlan Yao, Hong Lv, Shaoxian Tang, Xiaoyan Zhou & Wentao Yang

  2. Department of Oncology, Shanghai Medical College, Fudan University, 270 Dongan Road, Shanghai, 200032, People’s Republic of China

    Huayan Ren, Yimin Li, Qianlan Yao, Hong Lv, Shaoxian Tang, Xiaoyan Zhou & Wentao Yang

  3. Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People’s Republic of China

    Huayan Ren

  4. College of Basic Medical Sciences, Zhengzhou University, Zhengzhou, People’s Republic of China

    Huayan Ren

Authors
  1. Huayan Ren
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yimin Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Qianlan Yao
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Hong Lv
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Shaoxian Tang
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Xiaoyan Zhou
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Wentao Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Huayan Ren and Yimin Li: writing-original draft preparation. Qianlan Yao, Hong Lv, Shaoxian Tang, and Xiaoyan Zhou: conceptualization, data curation. Wentao Yang: writing-reviewing and editing.

Corresponding author

Correspondence to Wentao Yang.

Ethics declarations

Ethics approval

This study was conducted with the approval of the Ethics Review Committee at Fudan University. Informed consent was obtained from all patients.

Conflict of interest

The authors declare no competing interest.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (PDF 171 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ren, H., Li, Y., Yao, Q. et al. Epithelioid leiomyosarcoma of broad ligament harboring PGR-NR4A3 and UBR5-PGR gene fusions: a unique case report. Virchows Arch 480, 933–938 (2022). https://doi.org/10.1007/s00428-021-03169-4

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00428-021-03169-4

Keywords

Search

Navigation