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Rooper, Lisa M.; Agaimy, Abbas; Dickson, Brendan C.; Dueber, Julie C.; Eberhart, Charles G.; Gagan, Jeffrey; Hartmann, Arndt; Khararjian, Armen; London, Nyall R.; MacMillan, Christina M.; Palsgrove, Doreen N.; Nix, J. Stephen; Sandison, Ann; Stoehr, Robert; Truong, Tra; Weinreb, Ilan; Bishop, Justin A.

DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base : Detailed Clinicopathologic Characterization of a Distinctive Entity

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  • Media type: E-Article
  • Title: DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base : Detailed Clinicopathologic Characterization of a Distinctive Entity : Detailed Clinicopathologic Characterization of a Distinctive Entity
  • Contributor: Rooper, Lisa M.; Agaimy, Abbas; Dickson, Brendan C.; Dueber, Julie C.; Eberhart, Charles G.; Gagan, Jeffrey; Hartmann, Arndt; Khararjian, Armen; London, Nyall R.; MacMillan, Christina M.; Palsgrove, Doreen N.; Nix, J. Stephen; Sandison, Ann; Stoehr, Robert; Truong, Tra; Weinreb, Ilan; Bishop, Justin A.
  • imprint: Ovid Technologies (Wolters Kluwer Health), 2021
  • Published in: American Journal of Surgical Pathology
  • Language: English
  • DOI: 10.1097/pas.0000000000001741
  • ISSN: 0147-5185
  • Origination:
  • Footnote:
  • Description: <jats:p>A novel <jats:italic toggle="yes">DEK-AFF2</jats:italic> 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 <jats:italic toggle="yes">DEK-AFF2</jats:italic> 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 <jats:italic toggle="yes">DEK-AFF2</jats:italic> fusions in 13 cases (48%). Nine were centered in the nasal cavity, 2 in the middle ear/temporal bone, 1 in the nasopharynx, and 1 in the orbit. These tumors displayed recurrent histologic features including (1) complex endophytic and exophytic, frequently papilloma-like growth, (2) transitional epithelium with eosinophilic to amphophilic cytoplasm, (3) absent or minimal keratinization with occasional compact keratin pearls, (4) monotonous nuclei, and (5) prominent tumor-infiltrating neutrophils or stromal lymphocytes. This appearance not only overlaps with high-grade basaloid sinonasal carcinomas but also with benign papillomas and tumors reported as low-grade papillary Schneiderian carcinoma. However, <jats:italic toggle="yes">DEK-AFF2</jats:italic> carcinomas showed frequent local recurrence, cervical lymph node metastases, and distant metastasis with 2 deaths from disease, confirming they are aggressive malignancies despite relatively bland histology. Overall, the distinctive molecular, histologic, and clinical features of <jats:italic toggle="yes">DEK-AFF2</jats:italic> carcinomas suggest they represent a unique entity in the sinonasal region. This tumor merits increased pathologic recognition to better understand its prognostic and therapeutic implications.</jats:p>