[Clinicopathological and molecular genetic characteristics of DEK::AFF2 fusion associated nonkeratinizing squamous cell carcinoma in the nasal cavity and sinuses].

Authors

J G Wei, Z Zheng, E J Liu, M L Yang, H Y Zhao, X Y Wu, R Y Zhang, S L Li, X Q Lyu

Published in

Zhonghua bing li xue za zhi = Chinese journal of pathology. Volume 55. Issue 11. Pages 1040-1045. Nov 08, 2026.

Abstract

Objective: To investigate the clinicopathological and molecular genetic characteristics of DEK::AFF2 fusion associated nonkeratinizing squamous cell carcinoma (NKSCC) in the nasal cavity and sinuses. Methods: A total of 7 NKSCC cases with DEK::AFF2 fusion were diagnosed from July 2022 to September 2025 at the First Affiliated Hospital of Zhengzhou University (6 cases), and the Affiliated Hospital of Jining Medical University (1 case), China. A retrospective analysis was conducted on the clinicopathological data, FISH results, and next-generation sequencing data. The patients were followed up. Relevant literature was systematically reviewed. Results: Among the 7 patients, 4 were female, and 3 were male, with an age of 54 (40, 57) years. Four patients presented with masses in the nasal cavity and/or sinuses, two with nasopharyngeal masses, and one with a 6-month history of recurrent purulent discharge and hearing loss in the left ear. Three cases were located on the left side, and 4 on the right side. Microscopically, except for 1 case that exhibited a pure high-grade undifferentiated carcinoma morphology, the remaining 6 tumors displayed both exophytic papillary and inverted growth patterns. The exophytic papillary regions showed papilloma-like or low-grade NKSCC morphology, or a mixture of papilloma, low-grade NKSCC, and high-grade NKSCC. In 1 case, the tumor was mostly exophytic and papillary, while the inverted region showed significant cellular atypia, resembling high-grade undifferentiated carcinoma. A prominent neutrophilic infiltrate was frequently (6 of the 7 cases) seen in the tumor cells and stroma. Immunohistochemically, the tumor cells showed diffuse positivity for p40 (7/7), p63 (5/5), CK5/6 (5/6), AFF2 (5/5), and CKpan (AE1/AE3, 6/6). p16 staining was negative (no or patchy expression) in all tested cases (0/5). The tumors were negative for neuroendocrine markers Syn (0/5), CgA (0/4), and CD56 (0/4). The Ki-67 proliferation index ranged from 10% to 60%. FISH analysis confirmed DEK gene rearrangement in all 6 tested cases (6/6). Next-generation sequencing identified the DEK::AFF2 fusion gene in all cases (7/7). Conclusions: NKSCC with DEK::AFF2- fusion possesses unique molecular genetic characteristics. Its histological morphology can be easily confused with sinonasal papilloma and conventional squamous cell carcinoma. Therefore, a definitive diagnosis of this tumor requires integration of immunohistochemistry and molecular genetic testing.

PMID:
42967626
Bibliographic data and abstract were imported from PubMed on 02 Nov 2026.

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