Department of Neurosurgery, Division of Otolaryngology, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Department of Pathology, Division of Otolaryngology, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1). doi: 10.1101/mcs.a006120. Print 2022 Jan.
Glomangiopericytomas are rare, primary sinonasal tumors. The existing literature is mostly limited to reports describing the clinicopathologic characteristics of these tumors. Comprehensive genetic characterization of glomangiopericytomas remains lacking. Whole-exome sequencing of a case of glomangiopericytoma was performed under an institutional review board-approved protocol. A 69-yr-old female underwent surgical resection of a glomangiopericytoma. Whole-exome sequencing revealed somatic mutations in and , the former previously associated with this pathology but the latter not described. Concurrent dysregulation of Wnt/β-catenin and PI3K/AKT/mTOR signaling, secondary to mutations in these two oncogenes, may be amenable to targeted treatment with existing clinically approved drugs. Genomic characterization of glomangiopericytomas remains lacking. This study reports novel coexistence of and mutations in a case of glomangiopericytoma that may offer insight into the pathogenesis and potential for targeted medical therapies of this rare tumor.
血管外皮细胞瘤是一种罕见的原发于鼻窦的肿瘤。现有文献大多局限于描述这些肿瘤的临床病理特征的报告。对血管外皮细胞瘤的综合遗传特征分析仍有待进一步研究。根据机构审查委员会批准的方案,对一例血管外皮细胞瘤进行了全外显子组测序。一名 69 岁女性因血管外皮细胞瘤接受了手术切除。全外显子组测序显示存在 和 体细胞突变,前者先前与该病理相关,但后者尚未被描述。由于这两个致癌基因的突变,Wnt/β-catenin 和 PI3K/AKT/mTOR 信号通路的失调可能对现有的临床批准药物的靶向治疗有效。对血管外皮细胞瘤的基因组特征分析仍有待进一步研究。本研究报告了一例血管外皮细胞瘤中 和 突变的同时存在,这可能为该罕见肿瘤的发病机制和潜在的靶向治疗提供新的见解。