Uroradiology & genital male imaging
Case TypeClinical Case
Authors
Daniela-Maria Grozea 1, Jonas Pedersen 2, Rebeca Mirón Mombiela 2
Patient51 years, male
A 51-year-old male known with Von Hippel–Lindau disease (VHL) underwent a right-sided nephrectomy for multilocular cystic nephroma (2004). A left upper pole partial nephrectomy was performed for clear cell renal cell carcinoma (ccRCC) (2005). Later, he underwent multiple cryotherapy sessions for kidney tumours. He developed multiple disease-related tumours.
He has been followed up every six months, from 2020 until 2023, with upper abdominal multiparametric magnetic resonance imaging (mpMRI) scans to monitor known left kidney tumours. Compared to the first MRI, he has developed multiple cystic and solid lesions in the left kidney (Figure 1).
There are no signs of local recurrence from the previous surgery sites, and the known kidney tumours have been growing slowly since 2020 (Figures 2 and 3). The tumour caudal to the renal hilum has decreased in size due to recent cryo-treatment (Figure 3). Two new small solid lesions are located caudal to the renal hilum (Figure 4). No new lesions associated with the disease were observed in the adrenal glands or pancreas.
Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease marked by a tendency for various benign and malignant tumours in multiple organs [1]. The VHL tumour suppressor gene mutation is the underlying cause of this condition [1,2].
The patient has a typical presentation with bilateral kidney ccRCC and cysts, suspected pancreatic neuroendocrine tumour, and hemangioblastoma (HBs) in the central nervous system (CNS), all of them seen with MRI. These clinical features, along with bilateral pheochromocytomas, retinal hemangioblastoma, epididymal cystadenomas, and endolymphatic sac tumours, are characteristic of this syndrome [1]. The typical age for diagnosing VHL-related RCC is 37 [3].
RCC in VHL patients reduces life expectancy, mainly due to end-stage renal failure caused by surgical resections or metastatic disease [3,4]. The leading causes of death remain CNS hemangioblastoma (51–76%) and RCC (16–36%) [2]. Hence, image surveillance is critical.
According to Chahoud et al., screening for renal mass is recommended starting at age 15 using an abdominal MRI scan for autosomal dominant cases [3]. The abdominal multiparametric MRI should include standard T1, T2, contrast-enhanced fat-suppressed T1-weighted sequences, and diffusion-weighted images [3]. Solid ccRCC usually appears hypointense on T1-weighted images, although the presence of haemorrhage can lead to bright spots on T1-weighted images. ccRCCs may sometimes exhibit a signal loss in out-of-phase chemical shift MRI sequences due to the presence of intracellular lipids. These tumours typically appear hyperintense in T2-weighted images and display heterogeneous enhancement patterns [5].
For small renal masses (less than 3 cm), active MRI surveillance is recommended every 3–6 months in the first year to assess growth rate [3]. If the growth rate is 2–4 mm per year, shift to surveillance every six months for one year and then annually for two years. If the growth rate exceeds 5 mm per year, continue imaging every 3–6 months until treated or stable growth. If screening shows stable renal masses for three years, consider renal imaging every two years. For renal masses over 3 cm, nephron-sparing surgery at a specialised centre is recommended. Ablative techniques may be used for high-risk patients with smaller tumours [3]. Currently, this patient is under ongoing active surveillance, being followed up with MRI scans every six months since 2020, due to the growth of two tumours in the remaining left kidney. As shown with this VHL patient, performing active surveillance is feasible. However, comparing with the first scan (baseline) is important, as the growth rate is slow.
Other screening recommendations:
Maintaining a consistent, long-term surveillance regimen for VHL syndrome can effectively reduce the associated health risks and improve overall quality of life.
Written informed patient consent for publication has been obtained.
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[7] Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, Links TP, Halfdanarson TR, Daniels AB, Tirosh A; Pancreatic Manifestations Recommendations Development Subcommittee of the VHL Alliance (2022) Management recommendations for pancreatic manifestations of von Hippel-Lindau disease. Cancer 128(3):435-446. doi: 10.1002/cncr.33978. (PMID: 34735022)
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URL: | https://www.eurorad.org/case/18406 |
DOI: | 10.35100/eurorad/case.18406 |
ISSN: | 1563-4086 |
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