Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review
Open Access
- 13 June 2020
- journal article
- Published by Vilnius University Press in Acta medica Lituanica
- Vol. 27 (1), 25-32
- https://doi.org/10.6001/actamedica.v27i1.4263
Abstract
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. Affected individuals have an increased risk of developing tumours in several organs or their systems. The most common tumours are retinal or central nervous system hemangioblastomas (60–80%) and VHL-associated renal lesions. Contrast-enhanced computer tomography (CECT) is the gold standard for the diagnosis and characterization of renal tumours. 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. Case report. 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). 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. Conclusions. 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.Keywords
This publication has 30 references indexed in Scilit:
- Radiofrequency Ablation for Renal Cancer in Von Hippel–Lindau Syndrome Patients: A Prospective Cohort AnalysisClinical Genitourinary Cancer, 2018
- Imaging and Screening of Kidney CancerRadiologic Clinics of North America, 2017
- Percutaneous microwave ablation of renal cancers under CT guidance: safety and efficacy with a 2-year follow-upClinical Radiology, 2017
- A Review of Von Hippel-Lindau SyndromeJournal of Kidney Cancer and VHL, 2017
- Von Hippel–Lindau disease: a single gene, several hereditary tumorsJournal of Endocrinological Investigation, 2017
- Diagnostic accuracy of contrast-enhanced computed tomography and contrast-enhanced magnetic resonance imaging of small renal masses in real practice: sensitivity and specificity according to subjective radiologic interpretationWorld Journal of Surgical Oncology, 2016
- Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau SyndromeJournal of Clinical Endocrinology & Metabolism, 2015
- Von Hippel–Lindau diseaseHandbook of Clinical Neurology, 2015
- Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register serviceAmerican Journal of Medical Genetics Part A, 2010
- Evaluation of Cystic Renal Masses: Comparison of CT and MR Imaging by Using the Bosniak Classification SystemRadiology, 2004