Precancerous lesions that develop along the airway can evolve and lead to lung disease or remain benign without causing harm. The problem is, under the microscope, these lesions look the same, making it difficult to know if active intervention is required or just monitoring. Now, researchers from University College London have created the world’s first genetic sequencing of precancerous lung lesions and opened the doors for early detection and new treatments.
“Our study helps to understand the earliest stages of lung cancer development, by figuring out what’s going on inside these cells even before they become cancerous”, explained lead author, Professor Sam Janes (UCL Division of Medicine and University College London Hospitals, UCLH). “Using this information, we may be able to develop screening tests, and new treatments that could stop cancer in its tracks”.
Investigators analyzed 129 samples from biopsies and conducted several tests, including gene expression profiling, methylation profiling, and whole-genome DNA sequencing. Patients had follow-ups up to five years post-biopsy to check if the disease had manifested into lung squamous cell carcinoma, one of the two most common subtypes of lung cancer.
Certain mutations, gene expression, and chromosomal instability were found to be specific to lesions that would eventually develop into cancer and the team could predict with near-perfect accuracy this likelihood. This ability to anticipate the course of the disease allows clinicians to decide whether or not to offer a patient surgery at a much earlier stage than is currently possible, while saving others with benign lesions from unnecessary surgeries.
Bronchoscopy, a minimally invasive test that is often performed on patients with chronic cough or a history of lung cancer, is the procedure used for exploration.
“If we can use this new understanding of cancer development to create new diagnostic tests, it may one day be invaluable in picking up cancer early, enabling people to access treatment much earlier in the disease process”, added co-author Dr. Adam Pennycuick.
The sooner a diagnosis can be made, the better the chances of recovery. The American Cancer Society estimates a five year survival rate close to 92% for stage 1 patients, but if the disease evolves and spreads, these can fall dramatically.
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