Why did ROS1 mutation take 5 years to find at 40?

Hi,

Welcome to icliniq.com.

I can understand your concern.

I have read your query and understand your concern. What your doctors explained can certainly feel confusing at first, but the situation you describe is actually something we see quite often with certain lung cancers, such as ROS1-positive diseases.

The ROS1 mutation is a genetic change that exists inside the cancer cells themselves. Doctors usually test for this mutation only after a lung tumor has already been detected and a biopsy sample is available. Because of that, the mutation is usually discovered only at the time the cancer is diagnosed and not years earlier.

It is quite rare that such mutation occurs all of a sudden upon diagnosis. Rather, what normally happens is that such mutation starts slowly and gradually, and then after some time, grows into a mass, which can be detected through imaging, for example, CT scan.

Earlier symptoms like occasional cough or mild breathing difficulty can easily be mistaken for common problems such as infections, allergies, or airway irritation, so the underlying cause may not be investigated in detail until imaging is performed.

Another reason this can happen is that lung cancers driven by mutations such as ROS1 can sometimes grow relatively slowly compared with some other types. Because of this slower growth pattern, the cancer may be present for a period of time before it becomes large enough to be detected on scans or before symptoms become significant enough to lead to detailed testing.

In most situations, it is not that the mutation was missed earlier; rather, there was simply no indication to test for it until the lung lesion was identified and a biopsy was done.

In clinical practice, I occasionally see patients in their thirties or forties who are diagnosed in a similar way, where symptoms were mild for quite some time, and the mutation was identified only after the biopsy confirmed lung cancer.

Once the mutation is found, it actually becomes very helpful because it allows doctors to select targeted treatments specifically designed for cancers driven by ROS1. Do follow up whenever needed.

I hope this information will help you.

Thanks.