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Case Reports
. 2024 Dec 24;15(12):1501-1506.
doi: 10.5306/wjco.v15.i12.1501.

DEK::AFF2 fusion-associated middle ear non-keratinizing squamous cell carcinoma: A case report

Yi-Wen Sun  1 , Ying Zhou  1 , Xiao-Yang Liu  1 , Dan-Hua Shen  2
Affiliations
Case Reports

DEK::AFF2 fusion-associated middle ear non-keratinizing squamous cell carcinoma: A case report

Yi-Wen Sun et al. World J Clin Oncol. .

Abstract

Background: Primary squamous cell carcinoma (SCC) of the middle ear is rare, with non-keratinizing basaloid types being exceptionally uncommon. Distinguishing these cancers, often caused by viral factors (e.g., human papillomavirus or Epstein-Barr virus), or specific genetic alterations (e.g., bromodomain-containing protein 4-nuclear protein in testis fusion gene or Ewing sarcoma breakpoint region 1 gene fused with FLI chromosomal rearrangement), from other cranial conditions, is difficult. The recently identified DEK::AFF2 non-keratinizing SCC (NKSCC) is a novel subtype, fitting the World Health Organization classification of head and neck neoplasms. Less than 30 cases have been reported, highlighting the need for further studies.

Case summary: A 55-year-old female patient first exhibited signs of illness over 10 years ago with persistent discomfort in the left external auditory canal, accompanied by skin irritation and bleeding. One month prior to seeking professional help, she experienced hearing loss and a sensation of obstruction in the affected ear, intermittently accompanied by ringing sounds, but no dizziness. An unusual mass was detected in the left auditory canal, confirmed through biopsy as moderately differentiated epithelial squamous cancer cells. This led to her admission to our hospital, where the final diagnosis confirmed as "NKSCC linked to a positive DEK::AFF2 fusion". The patient underwent surgical excision, followed by three cycles of local radiation therapy. Yet, metastasis to the lumbar vertebrae occurred 19 months post-treatment, followed by neck lymph node swelling detected three months after a physical examination. The patient died nine months later despite surgical removal of the metastatic lesion.

Conclusion: DEK::AFF2 gene fusion-associated NKSCC of the middle ear carries a grim prognosis and presents an emerging challenge.

Keywords: Carcinoma; Case report; DEK::AFF2; Fusion; Pathology.

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Conflict of interest statement

Conflict-of-interest statement: All authors declare no conflict of interest in publishing the manuscript.

Figures

Figure 1
Figure 1
The magnetic resonance imaging and macroscopic view of the tumor. A: magnetic resonance enhanced scan of the inner ear canal showing a space-occupying lesion in the left external auditory canal (orange arrow); B: Macroscopic view of the tumor (orange circle).
Figure 2
Figure 2
Histological examination of the tumor. A: Histological analysis showed the tumor manifested as an endophytic papillary carcinoma resembling transitional epithelium with inverted nest-like proliferation patterns; B: The basal cells exhibited fence-like arrangements, interspersed with extensive areas of necrosis; C: Inflammatory cells, including lymphocytes, plasma cells, and neutrophils, were considerably present in both the epithelial and stromal layers.
Figure 3
Figure 3
Immunohistochemical staining and fluorescence in situ hybridization testing of the tumor. A: Immunohistochemical staining showing tumor cells positive for AFF2 (EnVision method, medium magnification); B: Immunohistochemical staining showing tumor cells positive for programmed death-ligand 1 (EnVision method, medium magnification); C Fluorescence in situ hybridization testing revealing disruption within the DEK gene structure.
Figure 4
Figure 4
Computed tomography scan of metastatic lesions. The computed tomography scan shows thoracic vertebral metastatic lesions (orange arrow).
See this image and copyright information in PMC

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