Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature

科内莉亚·德·兰格综合征合并上颌窦血管肉瘤:病例报告及文献复习

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Abstract

Angiosarcoma is a rare and aggressive subtype of soft-tissue sarcoma that typically originates from endothelial cells, often presenting in the head and neck (H&N) region. This case report aims to investigate a unique instance of sinonasal angiosarcoma in a patient with Cornelia de Lange syndrome (CdLS), a genetic disorder previously not associated with angiosarcoma, and to explore potential links between chronic rhinosinusitis (CRS) and sinonasal angiosarcoma. A 22-year-old female patient with CdLS and a history of chronic sinusitis presented with epistaxis, facial pain, and a maxillary sinus mass. Imaging and biopsy suggested angiosarcoma, and surgical resection was performed. Our multidisciplinary tumor board recommended adjuvant chemotherapy. However, following consultation with an outside community hospital, a decision to proceed with observation was made. Persistent disease was identified on post-treatment imaging, leading to concurrent radiotherapy and weekly Taxol. There was no active disease upon follow-up. To the best of our knowledge, this case represents the first report of angiosarcoma in a patient with CdLS. Although no direct link between CdLS and angiosarcoma has been established, CRS may create a microenvironment conducive to tumor development. Further research is necessary to better understand the relationship between CRS, genetic syndromes, and sinonasal angiosarcoma. Given the rarity and poor prognosis of sinonasal angiosarcoma, a multidisciplinary approach at academic centers is essential for optimal treatment.

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