■全身性HIF-2α抑制剂,Belzutifan,已被批准用于vonHippel-Lindau病(VHL)相关的肾细胞癌患者,中枢神经系统(CNS)血管母细胞瘤,和胰腺神经内分泌肿瘤。这种药物在控制VHL视网膜血管母细胞瘤(RH)方面也显示出希望,但是关于在这种情况下使用这种药物的研究很少。
■我们对在我们机构接受全身性belzutifan治疗的VHL相关RHs患者以及视网膜服务进行了回顾性研究。患者年龄,性别,基因型,系统性肿瘤的存在,药物的适应症,初始剂量,调整剂量,副作用,并记录肿瘤反应。我们还对描述belzutifan对VHL相关眼部肿瘤的影响的所有手稿进行了文献检索。
■我们确定了7例VHL相关眼部肿瘤患者的12只眼,这些患者在我们的机构接受了belzutifan治疗。其中,3例患者的5只眼在开始治疗时出现眼部肿瘤进展。在总共7名患者中,2例接受肾细胞癌治疗,2用于中枢神经系统血管母细胞瘤,2用于RH,一个是胰腺神经内分泌肿瘤。6例患者的初始剂量为每天120mgPO,1例患者的初始剂量为每天80mgPO。由于副作用,除1名患者外,所有患者的剂量均减少。所有患者眼部肿瘤均得到控制,平均随访13个月(4-24个月)。文献综述确定了7篇手稿,描述了21例VHL相关RHs患者中belzutifan介导的眼部肿瘤控制。
■药物belzutifan在控制RHs和预防VHL患者的视力丧失方面显示出巨大的希望。需要进一步的工作来解决最佳剂量,该药物作为新辅助治疗的作用,以及该药物在更大的眼部肿瘤患者队列中的长期疗效和耐受性。
UNASSIGNED: The systemic HIF-2 alpha inhibitor,
belzutifan, has been approved for use in patients with von Hippel-Lindau disease (VHL)-associated renal cell carcinoma, central nervous system (CNS) hemangioblastomas, and pancreatic neuroendocrine tumors. This drug has also shown promise in controlling VHL retinal hemangioblastomas (RHs), but little work has been published on the use of the drug in this setting.
UNASSIGNED: We conducted a retrospective review of patients with VHL-associated RHs followed by the retina service at our institution who were treated with systemic
belzutifan. Patient age, gender, genotype, presence of systemic tumors, indication for the drug, initial dose, adjusted dose, side effects, and tumor response were recorded. We also conducted a literature search for all manuscripts describing the effect of belzutifan on VHL-associated ocular tumors.
UNASSIGNED: We identified 12 eyes of 7 patients with VHL-associated ocular tumors who were treated with belzutifan at our institution. Of these, 5 eyes of 3 patients had progressing ocular tumors when
belzutifan was started. Of the 7 total patients, 2 were treated for renal cell carcinoma, 2 for CNS hemangioblastomas, 2 for RHs, and one for pancreatic neuroendocrine tumors. Initial dose was 120 mg PO daily in 6 patients and 80 mg PO daily in 1 patient. The dose was reduced in all but 1 patient due to side effects. The ocular tumors were controlled in all patients with an average follow-up of 13 months (range 4-24 months). Literature review identified 7 manuscripts that described
belzutifan-mediated control of ocular tumors in patients with VHL-associated RHs in 21 patients.
UNASSIGNED: The drug
belzutifan shows great promise for controlling RHs and preventing vision loss in patients with VHL. Further work needs to address the optimal dose, role of the drug as a neoadjuvant therapy, and long-term efficacy and tolerability of the drug in a larger cohort of patients with ocular tumors.