Advances in Liquid Biopsies Improve Detection of Lung Cancer Mutations

Lung cancer remains one of the deadliest cancers, largely because diagnosis often occurs at an advanced stage when treatment options are limited. In non-small cell lung cancer (NSCLC), identifying genetic alterations quickly is critical, as several mutations can be targeted with specific therapies that significantly improve survival. Conventional tissue biopsies, however, are invasive and time-consuming, delaying treatment decisions. Researchers have now demonstrated that blood-based testing can detect key lung cancer mutations earlier and more accurately, including in asymptomatic individuals.

In the study conducted at Hospital de Amor de Barretos (São Paulo, Brazil), with support from FAPESP (São Paulo, Brazil), researchers evaluated a commercial multigene liquid biopsy panel designed to detect known mutations associated with lung adenocarcinoma using circulating tumor DNA (ctDNA) extracted from blood samples. The test analyzes mutations across 11 genes involved in tumor development, including clinically actionable targets such as EGFR, ALK, and KRAS. Liquid biopsy allows blood samples to be collected at any time, without the need for invasive procedures, and does not require special collection tubes or immediate processing.

Image: Blood-based liquid biopsy enables rapid detection of actionable genetic mutations in lung cancer patients (Photo courtesy of 123RF)

The researchers analyzed 32 plasma samples from 30 individuals, including untreated patients, previously treated patients, and participants enrolled in a lung cancer screening program. Mutations were detected in 65.6% of all samples, rising to 87.5% among patients who had already undergone treatment. The most frequent alterations were found in TP53, KRAS, and EGFR. Notably, an EGFR resistance mutation (p.T790M) was identified, which has direct implications for therapy selection. The study, published in Molecular Oncology, confirms the feasibility and sensitivity of multigene liquid biopsy testing in a real-world Brazilian hospital setting.

One of the most striking findings was the detection of a TP53 mutation in an asymptomatic screening participant six months before a formal lung cancer diagnosis. This highlights the potential role of liquid biopsy as a complementary screening tool for high-risk populations such as smokers and former smokers. In addition to early detection, liquid biopsy can dramatically shorten turnaround time. While tissue biopsy results may take weeks, liquid biopsy results can be available within two days, enabling faster treatment initiation. Researchers suggest that with declining sequencing costs and broader access, this approach could become integrated into routine lung cancer care in Brazil.

“Our work shows that it’s possible to detect several mutations at the same time, reduce response time, and use samples that don’t require special collection,” said Letícia Ferro Leal, researcher and co-supervisor of the study. “This can accelerate the start of treatment and improve patient outcomes, although liquid biopsy should still be used alongside conventional tissue biopsy.”

Related Links:
Hospital de Amor de Barretos
FAPESP