Genomic Analysis May Detect Lung Cancer Before It Even Develops

Lung cancer is the most common cause of death among all cancers worldwide. However, in the early pre-cancer stages, not all patients undergo the progression to lung cancer. Identification of cases which may progress to lung carcinoma can be crucial to delineate between patients that require further cancer targeted therapy from those who require no interventions.

Lung Cancer

Lung Cancer

According to a new study, the potential of carcinoma in situ to develop into a full-fledged carcinoma may be predicted by using genomic alterations to examine tissue samples extracted from the lungs.

Currently, diagnosis of cancer is only possible after a tumor has formed to a size detectable by radiological examinations or if the tumor results in the release of tumor markers. However, the research by Sam Janes, Ph.D., a professor of respiratory medicine at the University College London in the United Kingdom has suggested that it may be possible to detect cancer before it has even formed by observing and detecting the early changes in the disease process that leads to cancer.

The research


To observe the role of genomic analysis in early detection of lung carcinoma


85 patients with carcinoma in situ


The researchers gathered 129 biopsy samples of carcinoma in situ from the lungs tissues of the participants. The biopsy samples were then analyzed using genomic technology, which included gene-expression profiling, methylation profiling, and whole-genome sequencing. All 85 participants were closely monitored for a duration of 5 years to observe the number of patients that developed lung carcinoma. Samples were taken from those who developed lung carcinoma and those whose carcinoma in situ regressed and both samples were compared.


The samples from patients who developed lung carcinoma had significant changes in gene profile with a large number of gene mutations in comparison with the patients who underwent regression of the carcinoma in situ. The lung carcinoma patients were all found to have mutations in a specific gene responsible for tumor suppression, TP53 gene. In 3 patients with regressive carcinoma in situ but having a mutation in the TP53 gene also progressed to lung carcinoma eventually.


The researchers were able to accurately predict the cases that would eventually develop into lung carcinoma by simply using the data obtained from the study. Genomic analysis may be the key to the prevention of cancer development by detecting it early on and initiating treatments that would regress the further progression of the disease process.





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