A study led by researchers from Vanderbilt University Medical Center has discovered genetic susceptibilities that may shed light on why people of African ancestry are disproportionately affected by lung cancer.  

Prior research has shown that Americans of African ancestry have a higher risk of lung cancer compared to white Americans despite smoking fewer cigarettes, but the reasons for this difference are not fully understood, and studies that delve into genetic susceptibilities for lung cancer among this population group have been limited. New research published Aug. 18 in the American Journal of Human Genetics revealed a total of 10 genomic regions — four of which had never been previously reported — associated with lung cancer. 

The researchers performed genome-wide association studies on 6,490 people of African ancestry that included 2,390 with a diagnosis of lung cancer and a control group of 4,100 for comparison. 

The authors confirmed that a well-known genetic region on chromosome 15 plays a major role in lung cancer risk across populations. The authors also discovered four additional genetic regions (on chromosomes 3, 8, 14 and 18) that had not been linked to lung cancer before. When their findings were combined with results from European and Asian populations, a total of 17 genetic regions were associated with lung cancer risk. Several genes in these regions are involved in biological processes such as lung function, cell growth and DNA repair.  

“Our work provides a critical advance in lung cancer by improving our limited understanding of genetic susceptibility in African ancestry populations and offers insights that may guide future treatment efforts,” said the study’s corresponding author, Melinda Aldrich, PhD, MPH, professor of Medicine, Thoracic Surgery and Biomedical Informatics at Vanderbilt.  

Aldrich and Jacklyn Hellwege, PhD, research assistant professor of Medicine, are the study’s senior authors. 

“This work was uniquely positioned to make use of advances in statistical modeling and genetic ancestry information to ultimately make new insights into the genetic architecture of lung cancer in this at-risk population,” said Hellwege. 

VUMC researchers received support from National Institutes of Health grants (U01CA253560, U01CA202979, R01CA141769, R01ES006717, P30CA022453 and P30CA068485) for the study. 

Other VUMC authors on the study are Michael Betti, PhD, James Jaworski, MPH, Shilin Zhao, PhD, and Eric Gamazon, PhD, MS. 

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Navigational bronchoscopy is as effective as the traditionally used transthoracic needle biopsy for diagnosing lung nodules, but with significantly fewer complications, per a new study published May 18 in the New England Journal of Medicine. This development may shift medical practice and reduce hospitalizations for patients undergoing lung nodule biopsies, said researchers.  

Each year, millions of lung nodules are detected during routine X-rays or CT scans. While most nodules are benign, some are cancerous and when found at this stage they are the earliest and most curable stage of lung cancer.   

Accurate biopsy of lung nodules is often required to tell benign nodules from malignant ones. To date, the most commonly used method, CT-guided transthoracic needle biopsy, carries a high complication rate — including pneumothorax, or partial lung collapse, affecting about 25% of patients. Treatment of the partially collapsed lung often requires a chest tube during a multiple day inpatient stay.  

This study is the first to directly compare these biopsy techniques and the results are compelling, said first author Robert Lentz, MD, associate professor of Medicine and Thoracic Surgery in the Division of Allergy, Pulmonary and Critical Care Medicine at Vanderbilt University Medical Center. The study, conducted across seven centers in the United States, compared the two techniques in a multicenter, randomized trial involving 234 patients with lung nodules between 10-30 mm.  

Navigational bronchoscopy uses a sophisticated targeting system and 3D imaging to guide biopsy tools through small peripheral airways directly to a lung nodule.   

The comparison revealed a diagnostic accuracy of 79% using navigational technology, closely matching the 74% accuracy of transthoracic biopsy. More importantly, the risk of pneumothorax was significantly lower, occurring in only 3% of bronchoscopy patients compared to 35% in those undergoing transthoracic biopsy. Severe cases requiring hospital admission or chest tube insertion were less than 1% with bronchoscopy, as opposed to 14% with the traditional method.  

“With approximately 300,000 lung nodule biopsies performed annually in the U.S., shifting to navigational bronchoscopy could greatly reduce complications and hospital stays. This study confirms its diagnostic efficacy and superior safety profile, making it the preferred choice for lung nodule diagnosis,” said senior author Fabien Maldonado, MD, MSc, professor of Medicine and Thoracic Surgery and director of Interventional Pulmonology.  

The research team plans to continue exploring optimal biopsy techniques, comparing different navigational and robotic bronchoscopy systems, and studying novel biopsy tools, said Maldonado, Pierre Massion Director in Lung Cancer Research.  

They are also involved in research on bronchoscopic ablation of lung cancer, advancing the field of interventional pulmonology.  

“As a relatively new medical subspecialty, we are quite proud and excited to have matured our research infrastructure to the point of being able to produce high quality multicenter trials like this, and hope that publication of this trial will serve as an introduction of sorts for interventional pulmonology to the larger general medical audience,” said Lentz.   

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Cancer investigators led by researchers at Vanderbilt-Ingram Cancer Center have co-developed a liquid biopsy blood-based assay used to identify specific gene mutations associated with the development or relapse of small-cell lung cancer (SCLC)