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Background <p>Adamantimoma-Like Ewing Sarcoma (ALES) is a rare variant of Ewing sarcoma that poses significant diagnostic challenges in the head and neck due to morphologic overlap with basaloid carcinomas and neuroendocrine neoplasms.</p> Case Presentation <p>We report a case of a middle-aged man with a left submandibular gland mass showing classic histologic features of ALES, including basaloid nests with peripheral palisading, rosette formation, and high mitotic activity.</p> Results <p>Immunohistochemistry showed co-expression of p63/p40, CD99, and cytokeratins, with patchy synaptophysin positivity and an elevated Ki-67 proliferation index. FISH for EWSR1 was negative, but next-generation sequencing identified a rare FUS::FEV fusion, previously reported only three times in ALES and never in the submandibular gland.</p> Conclusion <p>This case highlights the importance of extended molecular testing when EWSR1 FISH is negative; as alternate FET::ETS fusions may underlie the diagnosis.</p>

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Rare FUS::FEV–Rearranged Adamantinoma-Like Ewing Sarcoma Arising in the Submandibular Gland

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月10日

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  • Tomilola Agboola,
  • Daniel L. Miller

摘要

Background

Adamantimoma-Like Ewing Sarcoma (ALES) is a rare variant of Ewing sarcoma that poses significant diagnostic challenges in the head and neck due to morphologic overlap with basaloid carcinomas and neuroendocrine neoplasms.

Case Presentation

We report a case of a middle-aged man with a left submandibular gland mass showing classic histologic features of ALES, including basaloid nests with peripheral palisading, rosette formation, and high mitotic activity.

Results

Immunohistochemistry showed co-expression of p63/p40, CD99, and cytokeratins, with patchy synaptophysin positivity and an elevated Ki-67 proliferation index. FISH for EWSR1 was negative, but next-generation sequencing identified a rare FUS::FEV fusion, previously reported only three times in ALES and never in the submandibular gland.

Conclusion

This case highlights the importance of extended molecular testing when EWSR1 FISH is negative; as alternate FET::ETS fusions may underlie the diagnosis.