To Make Progress in Rare Cancers, Patients Must Lead the Way

DOI: 10.1200/JCO.2009.21.9212 In January, 2004, I flew to New Orleans, LA, to meet Andy Martin. He took me to the laboratory where he was working. A third-year medical student, he was trying to get tumor cells to grow to run experiments on them. The tumor cells were his own. Only 31 years old, Andy had been diagnosed with sinonasal undifferentiated carcinoma, or SNUC—a rare, lethal cancer. Even after an exhaustive search of the medical literature, he found fewer than 100 documented patients. Recognizing that a cancer so rare was unlikely to be studied by anyone else, Andy donated tissue from his own tumor and launched a study. Eleven months after our meeting, he died. In that short time, he pushed forward the study of SNUC. After extensive research and experimentation, he succeeded in getting the cells to grow, one of the first steps in the long process to research and find effective therapies for a disease. Lately, I have been thinking about Andy. During the past year, I identified and studied a range of potential new models for advancing the study of rare cancers, those with fewer than 40,000 diagnoses a year. There are more than 200 such cancers, and they represent an estimated 25% of cancer mortalities, yet for the most part they are underfunded and understudied. Many remain intractable, with treatments and mortality rates that have not budged in decades. For years, the typical approach has been that most of our resources and attention must focus on more common cancers, which still kill so many people every year. The assumption was that any advances made in these tumors would eventually benefit all people with cancer. But what we now know is that there are subtypes of tumors even among common cancers. It is urgent that as many pathways and targets as possible be studied and that we launch an initiative focusing resources and attention on rare cancers. The experience of Andy and other patients that I interviewed offers a way to do it. Andy ended up working with physicians who were his partners in an effort to find more effective therapies. Andy had time to research SNUC in a way that none of the physicians did. They were not SNUC specialists and had many other patients to treat. They recognized that when it came to SNUC, Andy was in many ways the expert on the disease. These physicians learned from the research he did, and used it to help guide him in the choices he made. When Andy wanted to study his own tumor in the hopes of driving research into the disease, he sought out Tyler Curiel, MD, who was then the head of the hematology/oncology department at the medical school where Andy studied. Andy’s idea was to work in Curiel’s laboratory. On that visit to New Orleans, Curiel told me that at first, he turned Andy’s request down. Curiel knew that Andy did not have extensive laboratory experience and would need support for his work. Curiel feared that running a project might offer him false hope about what he could realistically achieve given the prognosis of his disease. He was also concerned that removing part of Andy’s tumor to study it might harm him. But even amid all these reservations, Curiel says he realized something: medicine at that moment did not have a cure or even an effective treatment to offer Andy. “If I can’t cure his cancer,” Curiel told me he reasoned to himself when debating Andy’s proposal, then “why not let him take charge of it?” Once Curiel made this decision, he found a way to address his other concerns. One of the researchers in the laboratory volunteered to work with Andy in his spare time to supervise his work. The surgeons came up with a less invasive way to remove enough tumor to launch the study without harming Andy. When Andy’s efforts started to look promising and they realized they needed more money to keep the project going, Curiel and the university community held a fundraiser that brought in $28,000, a pittance in the world of drug development, but enough to allow Andy to figure out how to get the cells growing, something that had never been accomplished before. Andy always knew that the odds they would find a drug in time to save his life were low, but that small sliver of hope gave his life meaning and purpose and fueled a scientific search that he believed might ultimately help save others. The search continued even after Andy’s death. At the entrance of Curiel’s current laboratory at the University of Texas Health Science Center at San Antonio hangs a picture of Andy, a reminder to the JOURNAL OF CLINICAL ONCOLOGY P E R S P E C T I V E S I N O N C O L O G Y VOLUME 27 NUMBER 16 JUNE 1 2009