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Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity

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Abstract

Biphenotypic sinonasal sarcoma (BSNS) is a recently recognized type of sarcoma arising exclusively in the sinonasal tract displaying unique clinical course, histopathology, and genetics. Due to its rarity, only case series and case reports are available. In order to provide an overview of the current understanding of this disease, we present a comprehensive review of the literature and present three previously unreported cases of BSNS. A total of 55 genetically characterized and 41 cases without molecular data were identified in the literature. Two-thirds of patients were female and the peak incidence was in the fifth decade. Fatal outcome was rare (two cases with intracranial extension) and local recurrence occurred in 31.6%, all occurring within 5 years after initial treatment. Histologically, BSNS is highly cellular in the majority of cases and composed of fascicles of spindle cells, with entrapped hyperplastic surface epithelium being a frequent finding. The immunohistochemical profile is characteristic due to the biphasic nature of this lesion, with shared features of both myogenic and neural origin. Rhabdomyoblastic differentiation is apparent in a subset of cases. The most common genetic event is the PAX3-MAML3 fusion (58.6%) but isolated PAX3 rearrangement (19.2%), absence of rearrangements (9.1%), PAX3-FOXO1 (8.1%), PAX3-NCOA1 (4%), and isolated MAML3 rearrangement (2%) have also been reported. In conclusion, the recognition of BSNS is crucial due to its relatively indolent clinical course. A selected immunohistochemical panel and/or molecular confirmation can be used to aid in appropriate diagnosis and consequently in prognostication and to avoid overtreatment with chemotherapy regimens used in its mimics.

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Author information

Authors and Affiliations

  1. Department of Otorhinolaryngology Head and Neck Surgery and Audiology, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark

    Simon Andreasen

  2. Department of Pathology, Rigshospitalet, Copenhagen, Denmark

    Simon Andreasen & Katalin Kiss

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

    Justin A. Bishop

  4. Epigenetics and Human Disease Laboratory, Department of Biomedical Sciences, CBMR, Algarve Biomedical Centre, University of Algarve, Faro, Portugal

    Henrik Hellquist

  5. Department of Pathology and Laboratory Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Jennifer Hunt

  6. University of Udine School of Medicine, Udine, Italy

    Alessandra Rinaldo

  7. Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic

    Alena Skálová

  8. Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands

    Stefan M. Willems

  9. Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Michelle Williams

  10. Coordinator of the International Head and Neck Scientific Group, Padua, Italy

    Alfio Ferlito

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  1. Simon Andreasen
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  2. Justin A. Bishop
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  4. Jennifer Hunt
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  5. Katalin Kiss
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  6. Alessandra Rinaldo
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  7. Alena Skálová
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  8. Stefan M. Willems
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  9. Michelle Williams
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  10. Alfio Ferlito
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Contributions

SA conceived the study. SA and KK researched and analyzed data. SA drafted the manuscript which was edited and reviewed by JAB, HH, JH, AR, AS, SW, MW, and AF. All the authors gave final approval for publication. The authors take full responsibility for the work as a whole, including the study design, access to data, and the decision to submit and publish the manuscript.

Corresponding author

Correspondence to Simon Andreasen.

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The authors declare that they have no conflict of interest.

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Informed content was provided from the included patients.

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This article was written by members and invitees of the International Head and Neck Scientific Group (www.IHNSG.com).

All individuals listed as co-authors are qualified according to the ICMJE.

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Andreasen, S., Bishop, J.A., Hellquist, H. et al. Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity. Virchows Arch 473, 615–626 (2018). https://doi.org/10.1007/s00428-018-2426-x

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