Huang Alan Yan-Lun, Kuo Ying-Ju, Yang Muh-Hwa, Tai Shyh-Kuan, Hang Jen-Fan
Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd, Taipei City, 112201, Taiwan.
School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Head Neck Pathol. 2025 Apr 29;19(1):51. doi: 10.1007/s12105-025-01793-z.
DEK::AFF2 fusion squamous cell carcinoma (SCC) is a rare and aggressive subtype of non-keratinizing SCC. Previously reported cases have predominantly involved the sinonasal tract, middle ear, and skull base. To date, only 62 cases have been described, with rare exceptions including a primary lung tumor and a recurrent tumor in the trachea.
We describe the first documented case of primary laryngeal SCC harboring a DEK::AFF2 fusion in a 64-year-old female who presented with progressive hoarseness and airway obstruction. Clinical, radiologic, histopathologic, immunohistochemical, and molecular analyses were performed to characterize the tumor.
Imaging and laryngoscopic evaluation revealed a transglottic mass. Histopathology demonstrated non-keratinizing SCC composed of monotonous tumor cells with an infiltrative growth pattern. Immunohistochemistry showed diffuse p40 positivity and moderate to strong nuclear AFF2 expression. The DEK::AFF2 fusion was confirmed by fluorescence in situ hybridization and reverse transcription polymerase chain reaction. The patient underwent total laryngectomy followed by adjuvant chemoradiotherapy and remains disease-free at 12 months of follow-up.
This case expands the known anatomical distribution of DEK::AFF2 fusion SCC to include the larynx, suggesting that this rare entity may arise throughout the respiratory tract epithelium. Recognition of this fusion is important in the differential diagnosis of non-keratinizing SCCs across the respiratory tract.
DEK::AFF2融合性鳞状细胞癌（SCC）是一种罕见且侵袭性强的非角化性SCC亚型。先前报道的病例主要累及鼻窦、中耳和颅底。迄今为止，仅描述了62例，罕见的例外情况包括原发性肺肿瘤和气管复发性肿瘤。
我们描述了首例记录在案的原发性喉SCC病例，该病例发生在一名64岁女性身上，表现为进行性声音嘶哑和气道阻塞。进行了临床、放射学、组织病理学、免疫组织化学和分子分析以对肿瘤进行特征描述。
影像学和喉镜检查显示声门跨区肿物。组织病理学显示为非角化性SCC，由单一性肿瘤细胞组成，呈浸润性生长模式。免疫组织化学显示弥漫性p40阳性和中度至强核AFF2表达。通过荧光原位杂交和逆转录聚合酶链反应证实了DEK::AFF2融合。患者接受了全喉切除术，随后进行辅助放化疗，随访12个月时无疾病复发。
该病例将已知的DEK::AFF2融合性SCC的解剖分布范围扩大至包括喉部，提示这种罕见实体可能出现在整个呼吸道上皮。认识到这种融合在呼吸道非角化性SCC的鉴别诊断中很重要。
