Together with Urological Malignancies programme lead Professor Grant Stewart, Dr Sabrina Rossi and Dr Charlie Massie of the CRUK Early Detection programme recently won significant funding from The Evelyn Trust for a pilot study into DNA methylation-based diagnostics for renal cancer, utilising biosamples from our ARTIST study.
Current diagnostic methods applied to kidney masses (CT scan and biopsy) are unable to determine with sufficient confidence whether a mass is kidney cancer or not. As such, 20 per cent of patients who undergo surgery for a suspicious mass do so unnecessarily. Dr Rossi listed potential harms for these patients, "risks and complications associated with surgery, potential reduction in renal function, reduction in quality of life, [and] anxiety associated with a false cancer diagnosis." Ultimately aiming to reduce over-treatment, this Early Detection-Urological Malignancies collaborative research project will evaluate a non-invasive test developed to detect modifications in the blood, urine and excess fluid collected following biopsy.
While RCC is characterised by a small number of somatic mutations, DNA methylation markers are abundant, making them ideal markers for circulating tumour DNA (ctDNA) diagnostic tests. In as yet unpublished work, Dr Sabrina Rossi has identified a panel of methylation markers that can differentiate between renal cancers and benign lesions.
In this Evelyn Trust-funded pilot study, Dr Rossi will compare the detection of methylation markers in proximal samples (tumour biopsy and post biopsy aspirate) with distal samples (blood and urine) from the same patients. The study outcomes will enable researchers to determine the optimal sampling method (proximal or distal) and provide proof-of-concept data for use in designing a larger study. The minimally invasive distal samples offer the best opportunity for reducing the burden of invasive procedures for patients with renal masses. While proximal sampling has already been demonstrated to be effective in detecting lung and gynaecological cancers, this combination of proximal and distal sampling in renal cancer diagnosis is novel.