Biomarker testing accurately detects early kidney cancers, study found

Scientists at the Dana-Farber Cancer Institute say a new liquid biopsy method can detect kidney cancer with high accuracy, including small, local tumors that are usually curable but do not have early detection methods.

The report, published in the journal Nature Medicine, points out that if validated and widely used in larger trials, this non-invasive test can detect more early kidney cancers that has not yet spread, thereby reducing the mortality of the disease. "We hope to expand the study to a larger extent, detect cancer earlier, and thus act earlier," said Toni Choueiri, M.D., co-senior author of the study. He is director of the Lank Genitourinary Oncology Center in Dana-Farber.

It is estimated that by 2020, 73,750 new cases of kidney cancer will be diagnosed and approximately 14,830 people will die of kidney cancer. Approximately 35% of cancers are diagnosed only when they have spread beyond the kidney, which makes treatment more difficult. Small, early-stage renal tumors usually have no symptoms, and are increasingly found incidentally in scans performed on the abdomen for other purposes. However, for the general population, there is no recommendation to use imaging or other screening means to find early stage renal cancer. Initially, tests based on the methods described in the new report may be used to screen people with a family history of kidney cancer, or people with a history of kidney cancer, Choueiri says. "Before we make it fully mainstream, we need to study it specifically," he said.

Non-invasive liquid biopsy is a method to find cancer-related DNA in the tumor into the blood or other body fluids and is rapidly evolving towards clinical applications as a means of early detection of certain types of tumors. However, "renal cancer is one of the most difficult tumors to detect because it does not shed as much DNA as other tumors," said Matthew Freedman, MD, a medical oncologist at Dana-Farber and co-senior author of the report. This is where this test performs very well because it can identify abnormal patterns in a small amount of tumor shed DNA. A principle proves that early disease can be detected."

When blood samples were used to distinguish patients with renal cancer from those without renal cancer, the accuracy of this test approached 100%. This method is less precise in detecting urine samples, but the researchers believe that performance can be improved. If the test is validated in a larger trial and widely used in clinical practice, urine samples will even be less invasive than blood draws.

The technical name of this assay is cfMeDIP-seq, that is, cell-free methylated DNA immunoprecipitation and high-throughput sequencing. Other liquid biopsies look for mutations in the DNA shed by the tumor, thereby revealing the type and location of the cancer, while cfMeDIP-seq detects abnormal methylation, the chemical tag added to the DNA, which does not change their genetic code, but affects their function.

This method detected 99 patients with early and advanced renal cancer, 15 patients with stage IV transitional cell carcinoma of the urinary tract and 28 healthy cancer-free controls. When the serum was analyzed with this test, the study reported a "near-perfect" classification of patients at all stages of renal cancer. Although the urine-based classification was not as precise, the authors write, "We believe that performance can be improved by technical and computational optimization."

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