Sun YW, Zhou Y, Liu XY, Shen DH. DEK::AFF2 fusion-associated middle ear non-keratinizing squamous cell carcinoma: A case report. World J Clin Oncol 2024; 15(12): 1501-1506 [DOI: 10.5306/wjco.v15.i12.1501]
Corresponding Author of This Article
Dan-Hua Shen, MD, Chief Doctor, Department of Pathology, Peking University People’s Hospital, No. 11 Xizhimen South Street, Beijing 100044, China. shendanhuapkuph@163.com
Research Domain of This Article
Oncology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Yi-Wen Sun, Ying Zhou, Xiao-Yang Liu, Dan-Hua Shen, Department of Pathology, Peking University People’s Hospital, Beijing 100044, China
Author contributions: Sun YW and Zhou Y designed the study; Zhou Y, Sun YW, and Liu XY performed the research; Zhou Y and Shen DH wrote the manuscript; all of the authors read and approved the final version of the manuscript to be published.
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: All authors declare no conflict of interest in publishing the manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Dan-Hua Shen, MD, Chief Doctor, Department of Pathology, Peking University People’s Hospital, No. 11 Xizhimen South Street, Beijing 100044, China. shendanhuapkuph@163.com
Received: June 30, 2024 Revised: September 19, 2024 Accepted: September 30, 2024 Published online: December 24, 2024 Processing time: 114 Days and 1.7 Hours
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.
Core Tip: DEK::AFF2 non-keratinizing squamous cell carcinoma remains an understudied entity because of its rarity. This rare variant warrants increased attention and further exploration due to its potential severity and metastatic ability.
