Percutaneous thermal ablation for renal cell carcinoma in patients with Birt-Hogg-Dubé syndrome

Diagn Interv Imaging. 2019 Nov;100(11):671-677. doi: 10.1016/j.diii.2019.06.009. Epub 2019 Jul 10.


Purpose: The purpose of this study was to analyze the outcome of patients with Birt-Hogg-Dubé (BHD) syndrome who underwent percutaneous thermal ablation of renal cell carcinoma (RCC).

Materials and methods: Six patients with genetically proven BHD syndrome who underwent one or more sessions of percutaneous thermal ablation for the treatment of RCC were included. There were 4 men and 2 women, with a mean age of 57.3±7.5 [SD] years (range: 44-67years). A total of 29 RCCs (1-16 tumors per patient) were treated during 20 thermal ablation sessions (7 with radiofrequency ablation and 13 with cryoablation). Outcomes of thermal ablation therapy were assessed, including technical success, adverse events, local tumor progression, development of metastases, survival after thermal ablation, and changes in renal function.

Results: Technical success was achieved in all ablation sessions (success rate, 100%). No grade 4 or 5 adverse events were observed. All patients were alive with no distant metastasis during a median follow-up period of 54months (range: 6-173months). No local tumor progression was found. The mean decrease in estimated glomerular filtration rate during follow-up was 10.7mL/min/1.73m2. No patients required dialysis or renal transplantation.

Conclusion: Radiofrequency ablation and cryoablation show promising results for the treatment of RCCs associated with BHD syndrome. Percutaneous thermal ablation may be a useful treatment option for this rare hereditary condition.

Keywords: Birt–Hogg–Dubé syndrome; Cryoablation; Percutaneous thermal ablation; Radiofrequency ablation; Renal cell carcinoma.

MeSH terms

  • Adult
  • Aged
  • Birt-Hogg-Dube Syndrome / complications*
  • Carcinoma, Renal Cell / etiology
  • Carcinoma, Renal Cell / surgery*
  • Cryosurgery / methods*
  • Female
  • Glomerular Filtration Rate
  • Humans
  • Kidney Neoplasms / etiology
  • Kidney Neoplasms / surgery*
  • Male
  • Middle Aged
  • Radiofrequency Ablation / methods*
  • Treatment Outcome