Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review.

Audrius Untanas,Rūta Briedienė,Mantas Trakymas,Indrė Lekienė

doi:10.6001/actamedica.v27i1.4263

Abstract

Von Hippel-Lindau disease (VHL) is arare autosomal dominant syndrome diagnosed for 1 out of 36000-45000 newborns and 90% of thepatients have aclinical manifestation before 65 years of age. Affected individuals have an increased risk of developing tumours in several organs or their systems. Themost common tumours are retinal or central nervous system hemangioblastomas (60-80%) and VHL-associated renal lesions. Contrast-enhanced computer tomography (CECT) is thegold standard for thediagnosis and characterization of renal tumours. Thebest treatment option for VHL syndrome-caused renal tumours are nephron-sparing treatment techniques (cryotherapy, radiofrequency, or microwave ablation), which require imaging control. All these innovative treatment techniques are extremely important for VHL patients, because they increase thequality of life by staving off renal dialysis and preventing distant metastases. Our case report presents a16-year-old female with multiple renal cysts observed on ultrasound examination and clinically and molecularly diagnosed with Von Hippel-Lindau syndrome (deletion of theentire VHL gene). After that, for past 11 years multiple renal tumours were removed by cryoablation and patient monitoring on contrast-enhanced magnetic resonance (MRI) and CECT control scans was conducted. Active multidisciplinary patient follow-up, routine radiological examinations, and correct treatment tactics allow controlling the progression of renal cell carcinoma and other tumours associated with VHL syndrome, maintaining anormal organ function for along time, and preventing distant metastases and fatal disease outcomes.

Highlights

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of 36000–45000 newborns and 90% of the patients have a clinical manifestation before 65 years of age
Active multidisciplinary patient follow-up, routine radiological examinations, and correct treatment tactics allow controlling the progression of renal cell carcinoma and other tumours associated with VHL syndrome, maintaining a normal organ function for a long time, and preventing distant metastases and fatal disease outcomes
Contrast-enhanced computer tomography (CECT), US, or magnetic resonance imaging (MRI) are important tools for renal cell carcinomas (RCCs) diagnostics and for the treatment, as radical nephrectomy is not recommended for patients with VHL

Summary

Background

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of 36000–45000 newborns and 90% of the patients have a clinical manifestation before 65 years of age. The best treatment option for VHL syndrome-caused renal tumours are nephron-sparing treatment techniques (cryotherapy, radiofrequency, or microwave ablation), which require imaging control. All these innovative treatment techniques are extremely important for VHL patients, because they increase the quality of life by staving off renal dialysis and preventing distant metastases. Our case report presents a 16-year-old female with multiple renal cysts observed on ultrasound examination and clinically and molecularly diagnosed with Von Hippel-Lindau syndrome (deletion of the entire VHL gene). For past 11 years multiple renal tumours were removed by cryoablation and patient monitoring on contrast-enhanced magnetic resonance (MRI) and CECT control scans was conducted

Conclusions

BACKGROUND

Findings

DISCUSSION

CONCLUSIONS