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Whole exome sequencing analysis of a rare biphasic Sinonasal sarcoma: Genetic insights and multidisciplinary approach in diagnosis and treatment

Year: 2025
Type: article
Study design: Case Report
Abstract: INTRODUCTION: Biphenotypic sinonasal sarcoma (BSNS) is a rare, low-grade malignant soft tissue sarcoma with myogenic and neurogenic differentiation. This case report integrates medical-imaging, pathology, and molecular genetics, contributing valuable insights into the diagnosis and management of BSNS. CASE PRESENTATION: A 45-year-old female patient reported chronic nasal congestion and rhinorrhea. Imaging revealed a 31 × 26 mm low-density nasal mass, and pathology confirmed BSNS, characterized by spindle cells infiltrating the respiratory epithelium, positive for S-100 and α-SMA. The patient underwent endoscopic resection of the skull base lesion and Draf IIa surgery, with drainage of obstructive purulent secretions. The patient was monitored postoperatively and discharged with follow-up instructions, nasal irrigation, and topical steroids. DISCUSSION: Whole-exome sequencing identified significant genetic alterations in PAX3, MAML3, NCOA1, and FOXO1, shedding light on the molecular mechanisms of BSNS. This case underscores the importance of a multidisciplinary approach in diagnosing rare tumors and the potential of molecular genetics to guide treatment strategies. CONCLUSION: This case emphasizes the critical role of molecular genetic analysis in diagnosing and treating biphasic sinonasal sarcoma. The identified tumor cell patterns and molecular markers provide novel insights into its pathogenesis and improve diagnostic precision, offering a foundation for future research.
DOI: 10.1016/j.ijscr.2025.111370
Authors: Jianhao Xu, Jiarui Min, Jihao Su, Jingfeng Gu, Zijie Xu, Song Xu
Language: English
Field: Medicine
Open Access status: gold
Estimated APC paid: $2,090
OpenAlex ID: W4409800076
FWCI:
Cites: 13
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Related to: 10