A case of a 22-year-old man with primary synovial sarcoma of the parapharyngeal space with an AR somatic mutation: A case report and review of the literature. (January 2022)

• Record Type: Journal Article
• Authors: Jiang, He; Ma, Ge; Nie, Zunzhen; Zhu, Jin; Yan, Qingguo; Chen, Hongzhang; Nan, Haiyan; Guo, Ying
• Is Part Of: SAGE open medical case reports. Volume 10(2022)
• Publication Date: 2022-01
• Subjects: Synovial sarcoma -- pharyngeal -- biphasic -- AR mutation -- fluorescence in situ hybridization -- next-generation sequencing; Clinical medicine -- Case studies -- Periodicals; 616.09
• DOI: 10.1177/2050313X211068646
• Languages: English
• ISSNs: 2050-313X

Abstract

This case report describes a 22-year-old man with a pharyngeal foreign body sensation arising from the left side of the postpharyngeal wall. Histological examination showed a biphasic pattern of epithelioid and spindle cells including glandular differentiation. The tumour was positive for vimentin and SS18-SSX, and the spindle cells were positive for bcl-2; in contrast, the epithelioid tumour cells were positive for pan-cytokeratin, epithelial membrane antigen and CD99. There was no INI-loss in tumour cells. Then, the presence of the SYT-SSX gene fusion was demonstrated by fluorescence in situ hybridization. In addition, androgen receptor gene somatic mutations were detected by next-generation sequencing. However, 6 months postoperatively, the patient had neither developed a recurrence nor received adjuvant radiotherapy and chemotherapy. Accurate diagnosis depends on morphological and immunohistochemical examination and a proper molecular analysis, and novel technologies can detect a wide variety of genetic alterations. Although androgen receptor somatic mutations cannot provide addition treatment at present, surgical resection with a clean margin and follow-up is an appropriate approach.