Abstract
Background: Von Hippel-Lindau (VHL) disease is an autosomal-dominant hereditary cancer syndrome. Currently, studies on tyrosine kinase inhibitor (TKI) therapy for VHL disease are scarce. In this study, we retrospectively evaluated the efficacy and safety of four TKIs in patients with VHL disease.Methods: Patients diagnosed with VHL disease who were receiving TKIs were recruited. Patients were treated with sunitinib (n = 12), sorafenib (n = 11), axitinib (n = 6), or pazopanib (n = 3). The therapeutic response was evaluated according to the Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1.Results: From July 2009 to September 2018, 32 patients with VHL disease were eligible and included in this study. The median duration of TKI therapy was 22 months (IQR 8.5–44.75), and the median follow-up period was 31.5 months (IQR 13.5–63.5). According to the RECIST, 9 (28%) of 32 patients showed a partial response, 15 (47%) achieved stable disease, and eight exhibited continued disease progression. A partial response was observed in 11 (31%) of 36 renal cell carcinomas, 4 (27%) of 15 pancreatic lesions, and 1 (20%) of five central nervous system (CNS) hemangioblastomas. The average tumor size decreased significantly for renal cell carcinomas (P = 0.0001), renal cysts (P = 0.027), and pancreatic lesions (P = 0.003) after TKI therapy. Common side effects included hand–foot skin reactions, diarrhea, alopecia, thrombocytopenia, and fatigue.Conclusions: Partial alleviation of VHL disease-related tumors can be achieved by TKI therapies in some patients, providing an alternative treatment strategy, and the side effects of TKIs are acceptable. Larger prospective studies are warranted to further evaluate the efficacy and safety of TKIs in patients with VHL disease.
Highlights
Von Hippel-Lindau (VHL) disease (OMIM 193300) is an autosomal-dominant, multiorgan, familial neoplastic syndrome that results from a germline mutation in the VHL tumor suppressor gene [1,2,3]
Primary data indicated a clinical benefit for patients with VHL disease with renal cell carcinoma (RCC), pancreatic lesions, pheochromocytomas, renal cysts, and, possibly, CHBs (Table 2)
Our study showed that many patients chose to continue tyrosine kinase inhibitor (TKI) therapy because of the benefits of TKIs or the difficulties of surgical resection
Summary
Von Hippel-Lindau (VHL) disease (OMIM 193300) is an autosomal-dominant, multiorgan, familial neoplastic syndrome that results from a germline mutation in the VHL tumor suppressor gene [1,2,3]. The prognosis of VHL disease was discouraging, and the median lifespan of patients was reported to be 49 years [8]. Recent studies have reported that the life expectancy of patients with VHL disease has been extended to 64 years [9,10,11]. This improved prognosis may be attributed to several efforts, including earlier diagnosis, active surveillance, and improved treatment of these patients. Von Hippel-Lindau (VHL) disease is an autosomal-dominant hereditary cancer syndrome. We retrospectively evaluated the efficacy and safety of four TKIs in patients with VHL disease
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