Skip to main content
SpringerLink
Log in

The emerging PRRX1-NCOA fibroblastic neoplasm: a combined reappraisal of published tumors and two new cases

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

Abstract

Nuclear receptor coactivator (NCOA) family gene fusions have been increasingly discovered in diverse mesenchymal neoplasms, while PRRX1-NCOA-fused fibroblastic tumors still remain insufficiently characterized. We herein present two additional PRRX1-NOCA1-positive cases sharing lobulated hypocellular growth of innocuous spindle-to-stellate cells in a fibromyxoid stroma enriched with polymorphous vessels. A constellation of low cellularity, alternating myxocollagenous matrix, bland cytomorphology, and, especially, unusual collagenous rosettes in one case were morphologically reminiscent of low-grade fibromyxoid sarcoma. In both cases, immunoprofiles were similarly nondescript and negative for all diagnostic markers, including MUC4, emphasizing the diagnostic value of molecular testing. Review of published and current cases highlights a striking predominance of PRRX1-NCOA1, unusual collagenous rosettes, and favorable behavior in this emerging fibroblastic tumor type.

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

References

  1. Lacambra MD et al (2019) PRRX-NCOA1/2 rearrangement characterizes a distinctive fibroblastic neoplasm. Genes Chromosomes Cancer 58(10):705–712

    Article  CAS  Google Scholar 

  2. Dermawan JK et al (2021) PRRX1-NCOA1 rearranged fibroblastic tumor: clinicopathologic, immunohistochemical and molecular genetic study of 6 cases of a potentially under-recognized, distinctive mesenchymal tumor. Histopathology. https://doi.org/10.1111/his.14454

  3. Bekers EM et al (2017) Soft tissue angiofibroma: clinicopathologic, immunohistochemical and molecular analysis of 14 cases. Genes Chromosomes Cancer 56(10):750–757

    Article  CAS  Google Scholar 

  4. Chen BJ et al (2012) Loss of retinoblastoma protein expression in spindle cell/pleomorphic lipomas and cytogenetically related tumors: an immunohistochemical study with diagnostic implications. Am J Surg Pathol 36(8):1119–1128

    Article  Google Scholar 

  5. Puls F et al (2020) Recurrent fusions between YAP1 and KMT2A in morphologically distinct neoplasms within the spectrum of low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma. Am J Surg Pathol 44(5):594–606

    Article  Google Scholar 

  6. Kao YC et al (2020) Recurrent YAP1 and KMT2A gene rearrangements in a subset of MUC4-negative sclerosing epithelioid fibrosarcoma. Am J Surg Pathol 44(3):368–377

    Article  Google Scholar 

  7. Sumegi J et al (2010) Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Genes Chromosomes Cancer 49(3):224–236

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Le Loarer F et al (2019) Clinicopathologic and molecular features of a series of 41 biphenotypic sinonasal sarcomas expanding their molecular spectrum. Am J Surg Pathol 43(6):747–754

    Article  Google Scholar 

  9. Wang L et al (2012) Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosomes Cancer 51(2):127–139

    Article  CAS  Google Scholar 

  10. Agaram NP et al (2019) Expanding the spectrum of intraosseous rhabdomyosarcoma: correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol 43(5):695–702

    Article  Google Scholar 

  11. Kao YC et al (2021) Recurrent MEIS1-NCOA2/1 fusions in a subset of low-grade spindle cell sarcomas frequently involving the genitourinary and gynecologic tracts. Mod Pathol 34(6):1203–1212

    Article  CAS  Google Scholar 

  12. Alaggio R et al (2016) A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol 40(2):224–235

    Article  Google Scholar 

  13. Karanian M et al (2020) SRF-FOXO1 and SRF-NCOA1 fusion genes delineate a distinctive subset of well-differentiated rhabdomyosarcoma. Am J Surg Pathol 44(5):607–616

    Article  Google Scholar 

  14. Kobzev YN et al (2004) Analysis of translocations that involve the NUP98 gene in patients with 11p15 chromosomal rearrangements. Genes Chromosomes Cancer 41(4):339–352

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors also thank Kaohsiung Chang Gung genomic (CLRPG8G0591) and tissue bank (CLRPG8F1701 and CLRPG8F1702) core laboratories for technical assistance.

Funding

This work was sponsored in part by the Chang Gung Hospital (CMRPG8L0371 to HYH).

Author information

Authors and Affiliations

  1. Department of Pathology, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

    Chien-Heng Chen

  2. Department of Pathology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

    Kung-Chao Chang

  3. Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Kung-Chao Chang

  4. Department of Surgery, Kaohsiung Municipal Siaogang Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

    Chieh-Han Chuang

  5. Department of Pathology, Taichung Veterans General Hospital, Taichung, Taiwan

    Jing-Tong Fu

  6. Department of Anatomic Pathology , Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, 123, Ta-Pei Rd., Niao-Sung District, Kaohsiung, 83301, Taiwan

    Hsuan-Ying Huang

Authors
  1. Chien-Heng Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kung-Chao Chang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Chieh-Han Chuang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jing-Tong Fu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hsuan-Ying Huang
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Chen CH, Chang KC, and Huang HY: conception and design of the work; collection, analysis, and interpretation of the data; drafting the manuscript; and revising it critically for important intellectual content and scientific integrity. Chuang CH and Fu JT: collection, analysis, and interpretation of data and providing the tissue specimens. All authors approve the final version of the manuscript.

Corresponding author

Correspondence to Hsuan-Ying Huang.

Ethics declarations

Ethics approval

Samples were used in accordance with ethical guidelines for the use of retrospective tissue samples approved by the institutional review board of Chang Gung Memorial Hospital (202002040B0).

Competing interests

The authors declare no competing interests.

Additional information

Publisher's note

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

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Chen, CH., Chang, KC., Chuang, CH. et al. The emerging PRRX1-NCOA fibroblastic neoplasm: a combined reappraisal of published tumors and two new cases. Virchows Arch 481, 111–116 (2022). https://doi.org/10.1007/s00428-021-03219-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00428-021-03219-x

Keywords

Search

Navigation