Liquid biopsy

//A new, faster, less invasive technique to analyse tumour mutations

Until recently, if you wanted to know how a tumour was evolving, you had to take a biopsy of the cancer tissue and analyse it in a lab. This was clearly an invasive method for the patient, requiring a puncture, incision or surgery, and you could not use it to track the disease’s progression. Now, however, a new experimental technique can detect tumour mutations with a simple blood test.

A liquid biopsy is able to detect a tumour’s specific mutations from a peripheral blood sample

Metastatic tumours release cells and, therefore, genetic material into the blood stream. A liquid biopsy—also known as a circulating tumour DNA test or blood-based biomarkers test—is able to detect a tumour’s specific mutations from a peripheral blood sample. This will avoid unnecessary inconvenience for the patient and save time as well, because the results of the analysis will be available in only one or two days. Also, because the procedure is so simple, it can be repeated as often as physicians think appropriate, enabling them to keep an eye on the evolution of a pathology that is not static, but changing. A better understanding of the biology and genetics of tumours will help in taking decisions on treatment, which can then be adapted to the specific characteristics of each cancer.

The Vall d’Hebron Institute of Oncology (VHIO) will be the first scientific centre in the world to employ the technique. The first phase will use the technique to detect RAS biomarkers (KRAS and NAS) in patients with metastatic colorectal cancer. Patients who have the biomarkers—approximately half of all cases—will be able to receive specific treatments targeted at their mutation. This will be a significant step forward towards precision medicine.

The first phase is part of the VHIO’s research programme. When the test receives European Conformity approval, hospitals will be able to begin using liquid biopsy as a tool in medical care. It will also be available for the treatment of other types of cancer.

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