Telling a Harmless Lump From a Cancer A Blood Test Claim for Kidney Masses Built on Circulating microRNAs

This application claims methods for working out whether a lump found in someone’s kidney is cancer, using microRNAs circulating in blood or urine rather than a scan or a needle. Claim 1 is a diagnostic method: measure the level of one or more named microRNAs in a sample, compare it against a reference level, and decide whether the mass is benign or malignant. The applicant is BIOREK S.r.l., an Italian company spun out of a Milan research hospital, and the filing is an Australian divisional of an earlier application tracing back to a European priority filed in January 2019.

The Problem

Renal cell carcinoma accounts for about eighty per cent of kidney cancer in adults. The specification puts the global figure at more than 350,000 new diagnoses a year, making the kidney the seventh most common tumour site, with more than 140,000 deaths annually. Much of it is found by accident, because abdominal ultrasound is routine enough that renal masses turn up in people who came in for something else.

Finding the mass is the easy part. CT and MRI are described as the gold standard tools for identifying renal masses, but neither can reliably tell a benign lesion from a malignant one. The two that cause the most trouble are renal oncocytoma and fat-free angiomyolipoma, which on imaging can look much like a clear cell carcinoma. The specification cites a figure of up to twenty per cent of surgical operations each year being unnecessary as a result, and its own cohort bears the pattern out, with 16.3 per cent of the patients who went to surgery turning out to have a benign lesion.

The cost of getting it wrong is not trivial. Historically the standard treatment was radical nephrectomy, and the specification notes that the resulting loss of functioning tissue led to chronic kidney disease and hypertension in a number of patients, which is why practice moved toward nephron-sparing surgery. Percutaneous needle biopsy is used when imaging is inconclusive, but it is invasive and has its own sampling problems. What is missing, the specification concludes, is a molecular strategy for stratifying patients before anyone reaches for a scalpel.

What This Invention Does

Claim 1 is narrower than the title suggests. It is a method to determine whether a renal mass already present in a subject is benign or malignant, in two steps: measure the level of at least one microRNA, or a combination of them, in a biological sample, and compare that measured level to a reference level. The microRNAs that qualify are defined two ways, either by reference to two tables in the specification or by a closed list written into the claim itself, which names around forty species including hsa-miR-99a-3p, hsa-miR-192-5p, hsa-miR-215-5p and hsa-miR-451a. Where a combination is used, the claim requires it to be one of those set out in two further tables.

MicroRNAs are short non-coding RNA molecules that regulate how much protein a cell makes from a given gene. Because they leak into blood and urine and are relatively stable there, they can be measured without touching the tumour, which is what makes this a liquid biopsy approach.

The second element is genetic rather than expression based. Claim 2 adds determining the genotype of a set of single nucleotide polymorphisms in the UMOD gene, which codes for uromodulin, the most abundant protein in normal urine and one made only by kidney tubule cells. The specification is careful here: it says the biological role of uromodulin in renal cancer has not been clarified, and that its value as a specific urinary biomarker remains uncertain. The genotype is an added variable in a model, not a mechanism.

The rest of the claim set covers the other clinical questions with the same structure and different microRNA lists. Claim 3 discriminates low stage from high stage disease, claim 5 low grade from high grade, claim 7 detects clinical metastasis, claim 9 provides a prognosis, and claim 11 predicts the presence of a renal mass at all, framed as a screening test for people at raised risk through obesity, polycystic kidney disease or diabetes. Claim 13 narrows the preferred sample to plasma, serum or urine, and claim 16 covers a kit, preferably an array, containing the means to quantify the microRNAs.

The supporting study is a clinical cohort rather than a database reanalysis: 276 patients presenting with a first episode of renal mass and going to surgery, plus 83 controls with benign urological conditions such as kidney stones. All were genotyped, and a subgroup of 120 cases and 78 controls had circulating microRNAs measured. A separate prospective cohort of 110 people was followed over time, with every control given a CT scan to confirm they had no renal mass. Performance is reported as accuracy, recall and area under the ROC curve for combinations selected by machine learning, with age alone as the benchmark to beat at about 52 per cent accuracy.

Key Features

• A closed list, not a discovery. Claim 1 names the specific microRNA species and combinations that fall within it, which makes the claim easy to read against a competing test and hard to stretch.
• Benign versus malignant is the headline question. Of all the clinical questions the specification addresses, claim 1 is aimed squarely at the operations that turn out not to have been needed.
• Blood and urine instead of tissue. The preferred samples are plasma, serum and urine, so the test can be repeated as often as required without the risks of a needle biopsy.
• Genotype as a second axis. UMOD polymorphisms are layered on top of expression data, with the specification explicit that the biology is not yet understood.
• Six separate clinical questions. Screening, benign versus malignant, stage, grade, metastasis and prognosis are each claimed as independent methods with their own panels.
• A kit claim. Claim 16 covers the product a laboratory would buy, preferably as an array, which is where the commercial value of a diagnostic patent usually sits.

Who Is Behind It

BIOREK S.r.l. is an Italian company founded in 2019 inside San Raffaele Hospital in Milan, one of Italy’s largest research hospitals. Its product line is a set of liquid biopsy kits based on panels of circulating microRNAs, sold with software to interpret the results, offered first for research use and intended to move to in vitro diagnostic status.

Six inventors are named: Francesco Trevisani, Alessandra Cinque, Alessandro Larcher, Luca Rampoldi, Domenico Fichera and Francesco Ripa. Trevisani and Cinque are the company’s founders, serving as chief executive and president. Luca Rampoldi heads the Molecular Genetics of Renal Disorders unit at San Raffaele and has published extensively on uromodulin, which explains why a gene better known for inherited kidney disease turns up in a cancer diagnostics filing. The company is also the registered sponsor of an observational study, Biomarkers of Renal Cancer, on ClinicalTrials.gov.

The chain runs from Europe. The priority document is European application 19152126, filed on 16 January 2019, taken international as PCT/EP2020/051053 and published as WO 2020/148401. The Australian national phase became AU 2020208787, and the present application is a divisional of it. The priority country is the European Patent Office.

Why It Matters

Kidney cancer sits in an unusual position among common tumours. It has no screening programme, no established blood biomarker in routine use, and a detection pathway that is largely accidental. Most cancers of comparable incidence have at least one of those. Decisions about a small renal mass are therefore made on imaging appearance and patient factors, and a meaningful fraction of patients lose part or all of a kidney for a lesion that would never have harmed them. Any test that reliably shifts that fraction has obvious clinical value, and equally obvious commercial value, because it sits at a decision point that currently has nothing in it.

The design of this filing reflects how diagnostics patents have had to change. Rather than claiming a biological insight, which is difficult to protect in most jurisdictions, the claims name particular measured species, particular combinations and particular reference comparisons. That trades breadth for durability, and it creates a set of adjacent claims, because the panel separating benign from malignant is not the panel that predicts metastasis. It is why this specification runs to nearly 500 pages of tables. A European priority in 2019, a PCT, national phases and a divisional prosecuted in Australia seven years later is the pattern of a small company protecting a product it intends to sell.

Related Concepts

• MicroRNA – the class of short regulatory RNA whose measured levels form the basis of every claim here.
• Liquid biopsy – the broader approach of reading tumour signals from blood or urine instead of tissue.
• Renal oncocytoma – the benign tumour most often mistaken for kidney cancer on imaging, and the reason claim 1 exists.
• Uromodulin – the kidney-specific protein whose gene variants are added as a second variable in claim 2.
• Kidney cancer – Australian clinical background on incidence, symptoms and current diagnosis.

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AU 2026202126 was published in the Australian Official Journal of Patents on 9 April 2026 and is open for public inspection. Patent applications represent inventions that are sought to be protected and do not necessarily reflect commercially available products.