Biphenotypic sinonasal sarcoma: European multicentre case-series and systematic literature review

Abstract

SUMMARY Objective Biphenotypic sinonasal sarcoma (BSNS) is a rare low-grade cancer that was included from the 4th edition of WHO classification of head and neck tumours. The purpose of this study is to analyse clinical behaviour, pattern of recurrences and survival outcomes of this neoplasm. Methods Retrospective review of patients affected by BSNS who were treated via an endoscopic-assisted approach in 6 European tertiary-care referral hospitals. Cases of BSNS described in literature since 2012 to date were fully reviewed, according to PRISMA guidelines. Results A total of 15 patients were included. Seven patients were treated via an endoscopic endonasal approach, 4 with endoscopic transnasal craniectomy, and 4 via a cranio-endoscopic approach. Adjuvant treatment was delivered in 2 cases. After a mean follow-up of 27.3 months, systemic metastasis was observed in 1 case; the 5-year overall survival and disease-free survival rates were 100% and 80 ± 17.9%, respectively. Conclusions BSNS is a locally aggressive tumour with a low recurrence rate and encouraging survival outcomes if properly treated with surgical resection and free margins followed by adjuvant radiotherapy for selected cases. Endoscopic-assisted surgery is safe and effective as an upfront treatment within a multidisciplinary care protocol.

Novel PAX3::INO80D Fusion in Biphenotypic Sinonasal Sarcoma in an Adult

“…Biphenotypic sinonasal carcinoma is a recently described low-grade sarcoma entity occurring mostly in middle-aged women . Currently, there is no standard treatment except for complete surgical resection and, if needed, radiation . After discussion about adjuvant radiation therapy with radiation oncology, this patient decided to proceed with close observation.…”

“…The PAX3 gene is a transcription factor important in the development of skeletal muscle and tissue derived from neural crest cells and a promoter of nasal structure development. Whereas PAX3::FOXO1 has a 60% frequency in alveolar rhabdomyosarcoma (ARMS), PAX3::INO80D (Figure 2) has only been reported in 1 known case of ARMS . Alveolar rhabdomyosarcoma has the same fusion partners typically found in BSNS but with a different histologic phenotype and an aggressive clinical behavior.…”

“…These findings ruled out other spindle cell tumors such as spindle cell melanoma, carcinoma, fibrosarcoma, schwannoma, leiomyosarcoma, rhadomyosarcoma, synovial sarcoma, and sinonasal glomangiopericytoma, resulting in the final diagnosis of biphenotypic sinonasal sarcoma owing to the neural and myogenic differentiation. Biphenotypic sinonasal carcinoma is a recently described low-grade sarcoma entity occurring mostly in middle-aged women . Currently, there is no standard treatment except for complete surgical resection and, if needed, radiation .…”