Anyone who knew her would tell you that Jill Costello hated to lose. She was a fierce competitor as the coxswain for the CAL Berkeley crew team and the type of person that others gravitated to, pulled in by her easy smile and energetic enthusiasm. Jill had an intensity that seemed to radiate out of her. Young, beautiful and athletic, Jill was just 21 years old when she was diagnosed with stage IV lung cancer. She had never smoked a cigarette. She was dead less than a year later.
Jill's story is tragic but sadly it is not unique: Natalie DiMarco, a 32-year-old mom of two from Petaluma, California; Taylor Bell Duck, a 21-year-old Division 1 athlete from Greenville, South Carolina; Ingrid Nunez, first diagnosed when she was an 18-year-old freshman at Cornell University; Corey Wood, a 22-year-old marathoner who once summited Mt. Kilimanjaro. Jeff Julian, 39-year-old former swimmer for team USA and eight-time All-American and Olympic trials finalist. The parallels in their stories are striking -- all young, athletic, and healthy -- and none of them ever smoked. Yet all developed advanced stages of lung cancer.
My team and I wanted answers. Last year, the Addario Lung Cancer Medical Institute (ALCMI), with the support of our other foundation the Bonnie J. Addario Lung Cancer Foundation (ALCF), launched the Genomics of Young Lung Cancer Study in order to uncover why so many young adults (often athletic, never smokers) were getting lung cancer and determine how best to treat these patients. The "Young Lung" study is the first of its kind, and has grown into an international effort involving academic medical centers, community hospitals and researchers from around the world. Although we initially targeted 60 lung cancer patients diagnosed before the age of 40, but are now expanding the study to recruit several hundred such patients. Importantly, we designed this study so that patients can participate via the web in the comfort of their own home from wherever they live in the world, with no travel required!
The primary objectives of the Young Lung study are: to provide insight into lung cancer biology, to facilitate the identification of new genomically-enriched subtypes of lung cancer and to accelerate the delivery of targeted therapies for more effective treatment. It is our hope that this study will be the first step on the road to a deeper understanding of heritable and environmental lung cancer risk factors, and drive home the importance of a personalized approach to patient treatment.
The study has been underway just over a year, led by Dr. Barbara Gitlitz of the University of Southern California, and already has unearthed groundbreaking new information. We were asked to present our initial findings at the 16th World Conference on Lung Cancer this week in Denver. These results have far exceeded our expectations of the numbers of targetable mutations in just the first 50 young adult patients with Non-Small Cell Lung Cancer (NSCLC). Traditionally, NSCLC has been treated as a single disease; however, there are often fundamental differences in the structure of patients' cancer cells due to genomic mutations that make this tactic ineffective. These molecular subtypes are called "targetable" genomic alterations, or driver mutations, and they cause lung cancer to develop in healthy, nonsmoking young adults. The type of driver mutation a person has determines the nature of their disease and how to treat that individual patient. We discovered that 50 of our patients shared an unexpectedly high prevalence of the EGFR, ALK or ROS1 mutations/translocations.
I firmly believe that EVERY lung cancer patient should have their tumors molecularly tested, and this is confirmed by these exciting results. We now know their treatment should be built around their specific genomic alterations rather than simply taking a one-size-fits-all approach. The Young Lung study was intended to help us prove our hypothesis, and possibly give insight into genetic factors that might contribute to a person having these genomic alternations.
For the past two years, medical professionals and lung cancer experts have believed that roughly 35 percent of lung cancer cases are caused by "targetable" genetic mutations. We imagined that percentage would be much higher when looking at young adults with lung cancer, and we were right. More than 75 percent of the study participants had driver mutations, and when treated in accordance to their specific genomic alterations, they should respond far better than they had with standard chemotherapy and radiation. Furthermore, we found that certain mutations are more common in women. Common driver mutations were detected in more than 90 percent of the female participants, a nearly 25 percent increase from the male participants. Why this is happening to young people at such alarming rates is something we have not yet discovered. The Young Lung study is only just the beginning, but these early findings illustrate the importance of genetics in lung cancer risk and how essential personalized treatment is for patient survival.
Everyone deserves a future. In young people with lung cancer that future is at risk because most physicians often assume that these patients are not at risk for this disease. When they become symptomatic they are treated for other illnesses. This delay in treatment can be catastrophic. Here at the Addario Lung Cancer Foundation we want to see ALL lung cancer patients have access to the very best state of art treatment and have a chance at a full life.