Screening

Screening for RCC is recommended in specific high-risk populations.

Genetic risk evaluation

People with a known family history of an RCC syndrome, or a personal or family history strongly suggesting an RCC syndrome, should be offered genetic risk assessment. Criteria for genetic counselling and testing include:[1][5]​​​​​​​​​​[18][61]

  • Close blood relative with a known or likely pathogenic variant

  • Two or more close relatives with RCC (on the same side of the family)

  • Personal history of RCC with any of the following:

    • Diagnosed at age ≤46 years

    • Bilateral or multifocal tumours

    • First- or second-degree relative with RCC

    • Personal or family history of mesothelioma or uveal melanoma

    • Specific histological characteristics which suggest a hereditary form of RCC (e.g., multifocal papillary histology; hereditary leiomyomatosis-associated RCC, RCC with fumarate hydratase deficiency, or other associated histological features; multiple chromophobe, oncocytoma or oncocytic hybrid; angiomyolipomas of the kidney and one additional tuberous sclerosis complex criterion; succinate dehydrogenase-deficient RCC histology).

Testing may be for a specific familial pathogenic/likely pathogenic variant, if known. If the variant is unknown, a multi-gene panel for kidney cancer may be used, or a single-gene test if clinically indicated.[61]

Screening for RCC in people with a confirmed hereditary RCC syndrome

Regular abdominal imaging is recommended for patients with a confirmed hereditary RCC syndrome who do not have a diagnosis of RCC.[61]​ MRI and CT (with and without IV contrast for both modalities) are highly effective for detecting and characterising renal masses in patients with hereditary RCC syndromes.[64]​​​ However, use of CT screening should be limited because of the risks of increased lifetime radiation exposure. Conventional ultrasound can be used to detect cystic and solid renal masses, and determine if cystic renal lesions are benign, but it is less accurate than MRI and CT, especially in detecting smaller lesions and characterising more complex renal masses.[64][65]​​​ Contrast-enhanced ultrasound achieves a greater precision in classifying renal masses than conventional ultrasound, and may be an option in some circumstances.[64][83]

​The age at which screening should start, and the frequency of screening, varies according to the specific syndrome.[61]​ If patients have a close family member diagnosed with RCC at a young age, screening should start at 10 years before the age that the family member was diagnosed.[61]

For von Hippel-Lindau syndrome, MRI (preferred) or CT imaging (with and without IV contrast for both) is recommended every 2 years, starting at age 15 years, to assess for RCC and other intra-abdominal tumours.​[61][84]​​ For people with hereditary leiomyomatosis and RCC, which is characterised by an aggressive form of RCC with early onset, annual imaging is recommended starting at age 8-10 years.[61][85]​​​​

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