One in 3,000 carry risk of punctured lung from common gene mutation

Although medical researchers previously believed that one in 200,000 people were at risk of a punctured lung or pneumothorax from a faulty gene, it turns out that the risk is actually almost 100 times higher, raising concerns over effective diagnosis and treatment.

As it happens, the new estimates by Cambridge researchers now suggest that as many as one in 3,000 people could be carrying the FLCN, the mutated gene linked to a condition called Birt-Hogg-Dubé syndrome, which may cause lung collapse, according to a report by the University of Cambridge from April 8.

Specifically, the researchers examined data from UK Biobank, the 100,000 Genomes Project, and East London Genes & Health datasets covering over 550,000 individuals, discovering that between one in 2,710 and one in 4,190 people carries the particular variant of FLCN that underlies Birt-Hogg-Dubé syndrome.

Difference between diagnosis and carrying the gene

That said, while patients with a diagnosis of the syndrome, the other symptoms of which are benign skin tumors and an increased risk of kidney cancer, have a lifetime risk of a punctured lung of 37%, in the wider cohort of carriers of the related genetic mutation, the risk was lower – at 28%.

At the same time, patients with Birt-Hogg-Dubé syndrome have a 32% chance of developing kidney cancer, while this percentage drops to only 1% for the wider cohort of the faulty gene carriers.

Notably, pneumothorax arises from an air leak in the lung, which leads to painful lung deflation and shortness of breath. But a bigger concern is the risk of kidney cancer associated with a diagnosis of Birt-Hogg-Dubé. According to Professor Stefan Marciniak:

“If an individual has Birt-Hogg-Dubé syndrome, then it’s very important that we’re able to diagnose it, because they and their family members may also be at risk of kidney cancer. (…) The good news is that the punctured lung usually happens 10 to 20 years before the individual shows symptoms of kidney cancer, so we can keep an eye on them, screen them every year, and if we see the tumor it should still be early enough to cure it.”

Meanwhile, researchers have developed a new method to screen for cancer cells in circulating blood using laser technology, as well as exposed neurons that might be hindering cancer treatment, in addition to gaining useful insights from Greenland sharks that can live cancer-free for 400 years.