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Introduction <p>Molecular diagnostic tools may help resolve difficult differential diagnoses, and in some cases, they uncover entirely novel findings.</p> Methods <p>We performed immunohistochemistry and molecular analysis on a cytologically bland squamous tumor of the sinonasal region.</p> Results <p>We found a previously unreported <i>BMPR1B</i>::<i>AFF2</i> fusion in a difficult-to-characterize nasal and nasopharyngeal tumor exhibiting aggressive local behavior and recurrence.</p> Conclusion <p>While the <i>DEK</i>::<i>AFF2</i> fusion is well-characterized in sinonasal region tumors, alternate fusion partners are becoming increasingly recognized.</p>

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Novel BMPR1B::AFF2 in a Sinonasal Region Non-Keratinizing Squamous Cell Carcinoma

  • 期刊论文

  • 发表日期：

    2025年9月13日

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  • Tyler R. Selkin,
  • Varsha Manucha,
  • Jing Xu,
  • Doreen Palsgrove,
  • Julia A. Bridge,
  • Justin A. Bishop

摘要

Introduction

Molecular diagnostic tools may help resolve difficult differential diagnoses, and in some cases, they uncover entirely novel findings.

Methods

We performed immunohistochemistry and molecular analysis on a cytologically bland squamous tumor of the sinonasal region.

Results

We found a previously unreported BMPR1B::AFF2 fusion in a difficult-to-characterize nasal and nasopharyngeal tumor exhibiting aggressive local behavior and recurrence.

Conclusion

While the DEK::AFF2 fusion is well-characterized in sinonasal region tumors, alternate fusion partners are becoming increasingly recognized.