BMJ case reports · 2026
Neck mass in an elderly patient with EWSR1::NFATC2 gene fusion.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Faquih Amber E, Noor Eeman, Jawed Bilal, Ewais Mennatallah, Sehbai Aasim
Аннотация
Ewing sarcoma (ES) and its variants are rare and aggressive malignancies, occurring in paediatric and younger adult populations. Adamantinoma-like ES (ALES) is one of its variants, characterised by EWSR1::FLI1 fusions, and is exceptionally rare, especially in older adults. There are a few similar cases reported in the literature. We report a rare case of an older adult with a complicated medical history and reported a left neck mass on a follow-up visit; the mass developed over nine months. After evaluation, he was found to have a rare diagnosis of ALES in this age group, specifically with this Ewing Sarcoma RNA binding protein 1 and nuclear factor of activated T cells cytoplasmic 2 (EWSR1::NFATC2) gene fusion. This case highlights the challenges of diagnosing and the multidisciplinary management of rare variants of ES with uncommon gene fusions and raises awareness for the future potential of molecular diagnostics and treatment-specific applications for improved access to care and better outcomes for this population.