Am J Surg Pathol 2021 May 27. Epub 2021 May 27.
Departments of Pathology Oncology Ophthalmology Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Erlangen, Germany Department of Laboratory Medicine and Pathobiology, University of Toronto Department of Pathology & Laboratory Medicine, Mount Sinai Hospital Department of Pathology, Sunnybrook Health Sciences Centre Department of Pathology, University Health Network, Toronto, ON Department of Pathology and Laboratory Medicine, University of Kentucky College of Medicine, Lexington, KY Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX Department of Pathology, Kaiser Permanente Walnut Creek Medical Center, Walnut Creek, CA Department of Head and Neck Pathology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
A novel DEK-AFF2 fusion was recently reported in 4 nonkeratinizing squamous cell carcinomas of the sinonasal region and skull base, including 1 with exceptional response to immunotherapy, but it is not yet clear if this rearrangement defines a unique clinicopathologic category or represents a rare event. This study aims to characterize a larger cohort of carcinomas with DEK-AFF2 fusions to assess whether they truly constitute a distinctive entity. Among 27 sinonasal and skull base nonkeratinizing squamous cell carcinoma that were negative for human papillomavirus and Epstein-Barr virus, RNA sequencing identified DEK-AFF2 fusions in 13 cases (48%). Read More