Skip to main content

Advertisement

SpringerLink
Log in

A Low Grade Nasopharyngeal sarcoma With FUS::NACC1 Fusion and Immunohistochemical Evidence of Epithelial Differentiation: Expanding the Clinicopathologic Spectrum of an Emerging Entity

  • Case Reports
  • Published:
Head and Neck Pathology Aims and scope Submit manuscript

Abstract

Background

RNA sequencing of unclassified soft tissue tumors has allowed for definition of multiple new entities. Antonescu et al. recently reported three case of low grade sarcoma with recurrent EWSR1/FUS::NACC1 fusion and distinctive storiform architecture that were suggestive of a novel tumor type.

Methods

Here, we present a case of an additional sarcoma with FUS::NACC1 fusion that arose in the head and neck and showed immunohistochemical evidence of epithelial differentiation.

Results

A 41 year old woman presented with throat and inner ear pain and was found to have a nasopharyngeal mass. Biopsy highlighted a spindle cell neoplasm composed of bland cells arranged in a tight storiform pattern. On immunohistochemistry, the tumor cells were focally positive for S100 in a fibrillary pattern but were also positive for high molecular weight cytokeratin, p40, and CD34. RNA sequencing demonstrated a FUS::NACC1 fusion. The patient remains free of disease 2 years after surgical resection.

Conclusion

These findings confirm the previously-reported recurrent storiform histology in sarcomas with EWSR1/FUS::NACC1 fusion while simultaneously expanding the immunohistochemical spectrum of this entity to include overt epithelial differentiation. With involvement of a head and neck mucosal site, these findings also expand the differential diagnosis to include multiple mesenchymal entities including spindle cell squamous cell carcinoma. Further recognition of this emerging entity via expanded RNA sequencing panels will be necessary to determine the prevalence of these unique features.

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
Fig. 3

Similar content being viewed by others

Data Availability

All data generated or analyzed during this study are included in this published article.

Code Availability

Not applicable.

References

  1. Antonescu CR, Dickson BC, Zhang L, Sung YS, Fletcher CD. Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions. Mod Pathol. 2021;34(8):1541–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Bishop JA, Gagan J, Baumhoer D, McLean-Holden AL, Oliai BR, Couce M, et al. Sclerosing Polycystic “Adenosis” of Salivary Glands: A Neoplasm Characterized by PI3K Pathway Alterations More Correctly Named Sclerosing Polycystic Adenoma. Head Neck Pathol. 2020;14(3):630–6.

    Article  PubMed  Google Scholar 

  3. Kim SK, Park YK. Ewing sarcoma: a chronicle of molecular pathogenesis. Hum Pathol. 2016;55:91–100.

    Article  CAS  PubMed  Google Scholar 

  4. Flucke U, van Noesel MM, Siozopoulou V, Creytens D, Tops BBJ, van Gorp JM, et al. EWSR1-The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review. Diagnostics (Basel). 2021;11(6).

  5. Nakayama K, Nakayama N, Wang TL, Shih Ie M. NAC-1 controls cell growth and survival by repressing transcription of Gadd45GIP1, a candidate tumor suppressor. Cancer Res. 2007;67(17):8058–64.

    Article  CAS  PubMed  Google Scholar 

  6. Argani P, Palsgrove DN, Anders RA, Smith SC, Saoud C, Kwon R, et al. A Novel NIPBL-NACC1 Gene Fusion Is Characteristic of the Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma. Am J Surg Pathol. 2021;45(11):1550–60.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Bishop JA, Alaggio R, Zhang L, Seethala RR, Antonescu CR. Adamantinoma-like Ewing family tumors of the head and neck: a pitfall in the differential diagnosis of basaloid and myoepithelial carcinomas. Am J Surg Pathol. 2015;39(9):1267–74.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Rooper LM, Bishop JA. Soft Tissue Special Issue: Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Practical Review of a Challenging Emerging Entity. Head Neck Pathol. 2020;14(1):59–69.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Rooper LM, Jo VY, Antonescu CR, Nose V, Westra WH, Seethala RR, et al. Adamantinoma-like Ewing Sarcoma of the Salivary Glands: A Newly Recognized Mimicker of Basaloid Salivary Carcinomas. Am J Surg Pathol. 2019;43(2):187–94.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Bridge JA, Fidler ME, Neff JR, Degenhardt J, Wang M, Walker C, et al. Adamantinoma-like Ewing’s sarcoma: genomic confirmation, phenotypic drift. Am J Surg Pathol. 1999;23(2):159–65.

    Article  CAS  PubMed  Google Scholar 

  11. Folpe AL, Goldblum JR, Rubin BP, Shehata BM, Liu W, Dei Tos AP, et al. Morphologic and immunophenotypic diversity in Ewing family tumors: a study of 66 genetically confirmed cases. Am J Surg Pathol. 2005;29(8):1025–33.

    Article  PubMed  Google Scholar 

  12. Baneckova M, Michal M, Hajkova V, Haller F, Mosaieby E, Salajka P, et al. Misleading Morphologic and Phenotypic Features (Transdifferentiation) in Solitary Fibrous Tumor of the Head and Neck: Report of 3 Cases and Review of the Literature. Am J Surg Pathol. 2022.

  13. Stevens TM, Rooper LM, Bacchi CE, Fernandes IL, Antonescu CR, Gagan J, et al. Teratocarcinosarcoma-Like and Adamantinoma-Like Head and Neck Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary Fibrous Tumor or Novel Tumor Entities? Head Neck Pathol. 2022.

  14. Lu C, Alex D, Benayed R, Rosenblum M, Hameed M. Solitary fibrous tumor with neuroendocrine and squamous dedifferentiation: a potential diagnostic pitfall. Hum Pathol. 2018;77:175–80.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Thompson LD, Wieneke JA, Miettinen M, Heffner DK. Spindle cell (sarcomatoid) carcinomas of the larynx: a clinicopathologic study of 187 cases. Am J Surg Pathol. 2002;26(2):153–70.

    Article  PubMed  Google Scholar 

  16. Bishop JA, Montgomery EA, Westra WH. Use of p40 and p63 immunohistochemistry and human papillomavirus testing as ancillary tools for the recognition of head and neck sarcomatoid carcinoma and its distinction from benign and malignant mesenchymal processes. Am J Surg Pathol. 2014;38(2):257–64.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Batsakis JG, Suarez P. Sarcomatoid carcinomas of the upper aerodigestive tracts. Adv Anat Pathol. 2000;7(5):282–93.

    Article  CAS  PubMed  Google Scholar 

  18. Katarinny Goes Gonzaga A, Lopes Cordeiro Mandu A, Oliveira Sales A, Miryam Costa Medeiros A, Rodrigues Rodrigues R, Teixeira Oliveira P, et al. Report of rare case of dermatofibrosarcoma protuberans in the buccal mucosa: review of diagnostic, histopathological and immunohistochemical criteria. Dermatol Online J. 2016;22(10).

  19. Martinez C, McDougal E, Gilstrap J, Friedman HI, Rivera M. An oral presentation of dermatofibromasarcoma protuberans with literature review: A case report. Int J Surg Case Rep. 2020;76:98–102.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Meehan SA, Napoli JA, Perry AE. Dermatofibrosarcoma protuberans of the oral cavity. J Am Acad Dermatol. 1999;41(5 Pt 2):863–6.

    Article  CAS  PubMed  Google Scholar 

  21. Kao YC, Lin PC, Yen SL, Huang SC, Tsai JW, Li CF, et al. Clinicopathological and genetic heterogeneity of the head and neck solitary fibrous tumours: a comparative histological, immunohistochemical and molecular study of 36 cases. Histopathology. 2016;68(4):492–501.

    Article  PubMed  Google Scholar 

  22. Le Loarer F, Laffont S, Lesluyes T, Tirode F, Antonescu C, Baglin AC, et al. Clinicopathologic and Molecular Features of a Series of 41 Biphenotypic Sinonasal Sarcomas Expanding Their Molecular Spectrum. Am J Surg Pathol. 2019;43(6):747–54.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Lewis JT, Oliveira AM, Nascimento AG, Schembri-Wismayer D, Moore EA, Olsen KD, et al. Low-grade sinonasal sarcoma with neural and myogenic features: a clinicopathologic analysis of 28 cases. Am J Surg Pathol. 2012;36(4):517–25.

    Article  PubMed  Google Scholar 

  24. Amirtham U, Manohar V, Kamath MP, Srinivasamurthy PC, Chennagiriyappa LK, Shenoy AM, et al. Clinicopathological Profile and Outcomes of Follicular Dendritic Cell Sarcoma of the Head and Neck Region - A Study of 10 Cases with Literature Review. J Clin Diagn Res. 2016;10(8):XC08–11.

    PubMed  PubMed Central  Google Scholar 

  25. Whaley RD, Thompson LDR. Epstein-Barr Virus-Associated Smooth Muscle Tumors of Larynx: A Clinicopathologic Study and Comprehensive Literature Review of 12 Cases. Head Neck Pathol. 2021;15(4):1162–71.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Baranov E, Hornick JL. Soft Tissue Special Issue: Fibroblastic and Myofibroblastic Neoplasms of the Head and Neck. Head Neck Pathol. 2020;14(1):43–58.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Funding

This study was funded in part by the Jane B. and Edwin P. Jenevein M.D Endowment for Pathology at UT Southwestern Medical Center. No external funding was obtained for this study.

Author information

Authors and Affiliations

  1. Department of Pathology, The Johns Hopkins University School of Medicine, 401 N. Broadway, 2242, 21231, Weinberg, Baltimore, MD, USA

    Lisa M. Rooper

  2. Department of Oncology, The Johns Hopkins University School of Medicine, 401 N. Broadway, 2242, 21231, Weinberg, Baltimore, MD, USA

    Lisa M. Rooper

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Jeffrey Gagan & Justin A. Bishop

Authors
  1. Lisa M. Rooper
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jeffrey Gagan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Justin A. Bishop
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

LMR and JAB designed the study, performed data collection and interpretation, and prepared the manuscript. JG performed data collection and interpretation. All authors read and approved the final paper.

Corresponding author

Correspondence to Lisa M. Rooper.

Ethics declarations

Conflicts of interest/Competing interests

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript.

Ethics approval

All procedures performed in this retrospective data analysis involving human participants were in accordance with the ethical standards of the institutional review board (Johns Hopkins Medicine IRB 00176183 and UT Southwestern IRB 112017-073).

Consent to participate/for publication

The IRB-approved study did not require informed consent.

Additional information

Publisher’s Note

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

Rights and permissions

Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Rooper, L.M., Gagan, J. & Bishop, J.A. A Low Grade Nasopharyngeal sarcoma With FUS::NACC1 Fusion and Immunohistochemical Evidence of Epithelial Differentiation: Expanding the Clinicopathologic Spectrum of an Emerging Entity. Head and Neck Pathol 17, 253–258 (2023). https://doi.org/10.1007/s12105-022-01488-9

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12105-022-01488-9

Keywords

Search

Navigation