By: Trish Adkins
Alex’s Lemonade Stand Foundation (ALSF) is proud to announce the $10 million investment in the study of diagnosing and treating cancer predisposition syndromes.
Just weeks before he was set to move into the dorms at Temple University, Cole Fitzgerald was in the emergency room with pain. He had already started his job with the Temple University football team, and his mom, Keren Fitzgerald, knew his pain had to be bad if Cole needed to miss a day at the job he loved. Several scans and blood tests later, he had a diagnosis: pancreatoblastoma, a cancer so rare that only 60 cases have ever been reported. His family was shocked and devastated.
Cole had already paid his dues in oncology. At 3 years old, he was diagnosed with neuroblastoma, a more common, yet still rare pediatric cancer. He endured 18 months of treatment, emerging and remaining cancer-free for 15 years. “Even though we always worried, we thought this was all behind him,” said Keren. 
At first, his family assumed this second diagnosis was caused by the harsh radiation treatment he received as a child. But his doctors had another idea and ordered a blood test to check for cancer predisposition — a gene in Cole’s body that could have increased his risk of developing cancer.
The results explained everything.
Cole had Li-Fraumeni Syndrome, an inherited cancer predisposition syndrome. This diagnosis explained both the neuroblastoma and pancreatoblastoma. His family was tested and his mom was also positive. She had battled breast cancer just a few years earlier. Cancer was in their genes — and the road ahead was paved with uncertainty, surveillance, and sadly for Cole, an end of his life.
After an 18-month battle with pancreatoblastoma, Cole died. He was just 19 years old.
“If we had known that Cole had this cancer predisposition at age 3, his surveillance and care would have been different. And we may have caught his secondary cancer a lot earlier than we did,” said Keren, who remains healthy, but receives comprehensive surveillance care at a genetic oncology clinic.
“Knowledge is our power,” she said.
Researchers estimate that at least 15-percent of all childhood cancers are driven by predispositions like Li-Fraumeni Syndrome. Yet, testing for these syndromes is not yet part of routine care for the general population, but could make a major difference in catching cancer in its earlier stages. Beyond surveillance, there is no frontline, specific treatment for cancer predispositions syndromes. And when cancer does occur in a child in this population, those tumors tend to be more aggressive and harder to treat.
To address and solve both these problems, Alex’s Lemonade Stand Foundation funded two $5 million grants both focused on cancer predisposition.
The first grant will study the implementation and promise of a genetic test using newborn blood samples, obtained with a heel-stick at birth, to screen for several cancer predisposition syndromes. The project is led by Dr. Sharon Plon at Baylor College of Medicine and Dr. Lisa Diller at Dana-Farber Cancer Institute, in collaboration with the Brigham and Women’s Hospital in Boston and Texas Children’s Hospital in Houston. Co-investigators on the team include Dr. Will Parsons, Dr. Stacey Pereira, Dr. Sarah Scollon from Baylor College of Medicine, Dr. Philip Lupo from Emory University, and Dr. Arindam Bhattacharjee and Dr. Richard Parad from Brigham and Women’s Hospital. The researchers will explore the promise of using the heel-stick test for cancer risk assessment; this intervention could reduce deaths from cancer or toxicity of cancer therapy by promoting cancer screening in infants found to be at risk.
The second project will study the potential for a cancer vaccine that could provide an early-stage intervention in kids with certain cancer predisposition syndromes. This project is led by Dr. Uri Tabori and Dr. David Malkin at The Hospital for Sick Children (SickKids) in Toronto. Joining their team as co-investigators are Dr. Gad Getz from the Broad Institute, Dr. Derin Keskin from the Dana-Farber Cancer Institute, Dr. Steven Lipkin from Weill Medical College of Cornell University, Dr. Trevor Pugh from University Health Network, Dr. Cynthia Hawkins from SickKids, and Dr. Drew Weissman from the University of Pennsylvania, the Nobel laureate known for his pioneering work with mRNA vaccines.
“Families like Cole’s are just waiting to get cancer, but surveillance and a vaccine would allow them to breathe a little easier knowing that it maybe could be prevented,” said Scott. “These projects are everything to these families.”
The two grants are funded by ALSF’s Crazy 8 Initiative, an ambitious grant category that funds collaborative teams that are tackling the most challenging problems in childhood cancer. Launched in 2020, the Crazy 8 has invested $35 million in eight collaborative projects. The in-progress grants include three projects that are studying the metastatic spread of Ewing sarcoma and osteosarcoma, a grant looking for a drug candidate for a previously “undruggable” oncogene called MYCN, a project that has successfully barcoded leukemia cells and is working to understand when a regular blood cell turns into a cancer cell, and another building a library of “molecular glues” as potential treatments for currently incurable pediatric cancers.
Of course, none of this would be possible without the generous support of donors.
The two new Crazy 8 Initiative projects were made possible by the generous support of the Northwestern Mutual Foundation, Rebecca and Dmitry Balyasny, the Kaliner Family Charitable Fund, Kristin and Michael Kelly, Ira and Andrea Tauber, Jeff and Kristy Snyder, the Danhakl Family Foundation, Kristen M. Waterfield, the Murray Family Foundation, Toba and Mitchell Spector, John and Connie Kordsmeier, Cynthia Chuang and T. Shane Johnson, William and Christin Bender, The Foresight Fund for Retinoblastoma Research, Meena R. Mansharamani, Claire and Jeffrey Black, and several anonymous donors.
