Kondapaneni Rishi, Florence Kaitlyn, Dooley Laura, Garrett Filip
Department of Otolaryngology, Head and Neck Surgery, University of Missouri School of Medicine, Columbia, USA.
Department of Pathology, University of Missouri School of Medicine, Columbia, USA.
Cureus. 2025 Apr 22;17(4):e82792. doi: 10.7759/cureus.82792. eCollection 2025 Apr.
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.
血管肉瘤是一种罕见且侵袭性强的软组织肉瘤亚型,通常起源于内皮细胞,常发生于头颈部区域。本病例报告旨在研究1例患有科妮莉亚·德朗热综合征(CdLS)的患者发生鼻窦血管肉瘤的独特病例,CdLS是一种此前未与血管肉瘤相关联的遗传性疾病,并探讨慢性鼻窦炎(CRS)与鼻窦血管肉瘤之间的潜在联系。一名患有CdLS且有慢性鼻窦炎病史的22岁女性患者出现鼻出血、面部疼痛和上颌窦肿物。影像学检查和活检提示为血管肉瘤,并进行了手术切除。我们的多学科肿瘤委员会建议进行辅助化疗。然而,在与一家外部社区医院会诊后,决定进行观察。治疗后影像学检查发现疾病持续存在,遂同时进行放疗和每周一次的紫杉醇治疗。随访时未发现活动性疾病。据我们所知,本病例是CdLS患者发生血管肉瘤的首例报告。虽然尚未确定CdLS与血管肉瘤之间存在直接联系,但CRS可能会创造一个有利于肿瘤发展的微环境。有必要进行进一步研究,以更好地了解CRS、遗传综合征与鼻窦血管肉瘤之间的关系。鉴于鼻窦血管肉瘤的罕见性和预后不良,学术中心采用多学科方法对于优化治疗至关重要。