Wellcome Sanger Institute detects early genetic markers for blood cancer

Researchers at the Wellcome Sanger Institute and collaborators have shown that DNA changes in blood cells can reveal the risk of myeloproliferative neoplasms (MPN) years before clinical symptoms appear. By analysing more than 450 blood samples and nearly 8,000 blood‑test results from 30 patients, the team built genetic “family trees” that tracked how cell lineages evolve. Patients whose disease remained stable showed little genetic change, while those whose condition later worsened displayed new mutations, indicating that the disease trajectory is encoded in the genome long before it manifests.

The study, published in Cancer Discovery and presented at the AACR conference, focused on chronic blood‑forming organ tumours that affect about 40,000 people in the United Kingdom each year. Common driver mutations include JAK2, CALR and MPL. Early identification of these genetic signals could enable more precise diagnosis, monitoring and targeted treatment for blood‑cancer patients.