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Clinicians and scientists at St. Jude were studying adrenocortical carcinoma (ACC) long before Ryan Christian was born. This year marks the 20th anniversary of the International Pediatric Adrenocortical Tumor Registry, which was developed by St. Jude to provide a centralized repository for data and tumor samples.
“When we began studying this disease, oncology textbooks included about one paragraph on it,” recalls Raul Ribeiro, MD, St. Jude International Outreach Program director. “Nobody else was interested in developing protocols because of the rarity of this tumor.”
Ribeiro had previously identified an area in southern Brazil where the ACC incidence was 10 to 15 times higher than in other parts of the world. “We decided to create the registry so that we could collaborate with researchers in Brazil and other countries and start obtaining detailed information on this cancer,” Ribeiro explains.
Since its creation in 1990, the registry has accrued more than 315 patients. Investigators use information gleaned from this repository to better understand the disease, its outcome and risk factors. Clinicians also use data from this registry to design studies and to determine the best treatment approaches.
St. Jude scientists use the tumor samples and related data to conduct molecular studies and pinpoint the genetic alterations that cause ACC. Researchers at St. Jude have identified specific mutations in the p53 gene that increase the predisposition for ACC but not for other cancers. Gerard Zambetti, PhD, of Biochemistry has created an adrenal tumor model in the laboratory that scientists can use to test drugs for ACC. In addition to developing a gene array expression that predicts which patients will relapse, Zambetti and his colleagues are also trying to better understand the mechanisms that cause adrenal tumors to form in the first place.
Ninety-five percent of ACC patients in southern Brazil carry a germline mutation that increases their predisposition to cancer. St. Jude is currently partnering with a group in Brazil to look at the long-term side effects of therapy and to determine the incidence of secondary malignancies.
As a result of research conducted at St. Jude, the Children’s Oncology Group has created a multi-institutional treatment program that studies the biology of the tumors and the incidence of the different types of p53 mutations. Ryan Christian is participating in that ongoing study.
Editor's note: Ryan passed away January 24, 2013.