Renal cell carcinoma associated with von Hippel–Lindau syndrome: an ambispective study

Background. Renal cell carcinoma (RCC) associated with von Hippel-Lindau syndrome (VHL) is characterized by multifocal bilateral involvement of the renal parenchyma and is the leading cause of death in this category of patients due to disease progression or the development of end-stage chronic kidney disease. Aim. To analyze the treatment outcomes of patients with RCC associated with VHL syndrome. Materials and methods. The ambispective study included data of 30 patients treated with VHL-associated RCC from 2016 to 2024. In 23 (76.7%) cases, VHL syndrome was classified as type 1, and in 7 (23.3%) as type 2B. Non-metastatic RCC at the initial diagnosis was detected in 28 (93.3%) patients and metastatic RCC in 2 (6.7%). Extrarenal manifestations of VHL syndrome occurred in all patients. Watchful waiting was used in 6 (20.0%) patients, surgical treatment of renal parenchyma tumors in 21 (70.0%), metastasectomy – in 2 (6.7%), and systemic antitumor therapy in 3 (10.0%). Treatment of extrarenal manifestations of VHL syndrome included surgical interventions in 20 (66.7%) patients, radiation therapy in 8 (26.7%), and laser therapy in 9 (30.0%). The median follow-up for all patients from the RCC detection was 46.6 [1-249.5] months. Results. The four-year overall (OS) and disease-specific (DSS) survival rates for all 30 patients were 93.3% and 93.3%, respectively. In 28 patients with primary non-metastatic RCC, the 4-year metastasis-free survival (MFS) was 74.2%. In 21 patients after radical surgery for the primary non-metastatic renal cell carcinoma, the 4-year OS was 88.9%, DSS was 88.9%, relapse-free survival (RFS) was 62.9%, local recurrence-free survival was 53.9%, and MFS was 63.6%. In patients with distant metastases, the 4-year OS was 66.7%. Two (6.7%) patients developed terminal chronic kidney disease requiring permanent hemodialysis. Conclusion. VHL-associated RCC is a chronic disease with a torpid course, allowing to recommend organ-sparing treatment of primary tumors and metastasis-directed therapy of oligometastases. Antiangiogenic therapy is effective in metastatic RCC.