Gene sequencing project builds the foundation for next generation of childhood cancer care

September spotlights childhood cancer, which remains the leading cause of death by disease of young Americans. At St. Jude Children's Research Hospital, doctors and scientists are working to change that statistic

MEMPHIS, Tenn., Sept. 4, 2012 /PRNewswire-USNewswire/ -- As St. Jude Children's Research Hospital celebrates its 50th anniversary and marks September as Childhood Cancer Awareness Month, investigators are focused on the future.

Although survival rates for childhood cancer have soared to about 80 percent nationally since the hospital opened in 1962, cancer remains the leading cause of death by disease for U.S. children between infancy and age 15. The cause of many childhood cancers remains uncertain. For some cancers, drug development has stalled. For others, successful treatment leaves survivors at increased risk for second cancers and other problems that threaten their health and well-being.

In response to such challenges, St. Jude launched the most ambitious effort yet to identify the causes of some of the most difficult and poorly understood childhood cancers. Known as the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project, the three-year endeavor is using 21st century technology to decipher the complete normal and cancer genomes of 600 young patients with some of the toughest cancers. The human genome is stored in the DNA found in nearly all cells and provides the instructions needed to assemble and sustain a person.

"We expect the Pediatric Cancer Genome Project to catalyze global research in childhood cancer and improve our ability to diagnose, monitor and treat young patients with therapies that target the mutations identified as driving their disease," said Dr. William E. Evans, St. Jude director and chief executive officer. The project is designed to complement larger government efforts focused on adult cancers, which are often quite different from the cancers that strike children and adolescents.

To help realize that goal, published and unpublished whole genome sequencing data from the project are now freely available online to the global scientific community. "We hope other researchers will use this rich resource for insight into childhood cancer as well as other diseases of children and adults," said James Downing, M.D., St. Jude scientific director and the project's leader at St. Jude.

The privately funded Pediatric Cancer Genome Project has already yielded remarkable surprises, Downing added. "These discoveries are pointing us toward new therapeutic options for children," he said.

The findings include clues to understanding and possibly improving treatment of several cancers, including an aggressive subtype of acute lymphoblastic leukemia (ALL). The subtype is known as early T-cell precursor ALL or ETP-ALL. Although overall long-term survival is now 94 percent for ALL patients treated at St. Jude, the prognosis is much worse for patients with ETP-ALL. The new findings suggest patients in this subgroup might benefit from the addition of drugs developed for treatment of the blood cancer acute myeloid leukemia (AML).

In other studies, Pediatric Cancer Genome Project investigators reported evidence that drugs already under development for adult cancers and other diseases might help in fighting certain childhood tumors. The cancers include the eye tumor retinoblastoma as well as subtypes of the most common childhood brain tumor medulloblastoma.

Pediatric Cancer Genome Project researchers have also identified new mutations at work in an aggressive brain tumor as well as in adolescents and young adults with a tumor of the sympathetic nervous system called neuroblastoma. The results are fueling efforts to find new, more selective therapies for these cancers.

Outside of the Pediatric Cancer Genome Project, St. Jude investigators made progress on other fronts. Racial disparities in cancer survival are widely recognized among African-American patients of all ages. But an analysis from St. Jude added to evidence that equal access to comprehensive treatment and supportive care typically translates into equally good outcomes for most young African-American and white cancer patients. Researchers found no significant difference in survival rates between African-American and white children treated at St. Jude for virtually all cancers during a 15-year period ending in 2007.

A multicenter trial led by St. Jude researchers reported progress in the quest to reduce the use of radiation in treatment of young Hodgkin lymphoma patients. The study focused on patients without widespread disease or symptoms such as weight loss, fever or night sweats. The results showed that nearly half of young patients with such early stage Hodgkin lymphoma can be cured without undergoing either irradiation or intensive chemotherapy that would leave them at risk for second cancers, fertility and other problems.

"At St. Jude, the goal is to translate the best of basic and clinical research into therapies that combine high cure rates with minimal long-term side effects," said Richard Gilbertson, MD, PhD, director of the St. Jude Comprehensive Cancer Center. St. Jude is the first and only National Cancer Institute-designated Comprehensive Cancer Center devoted solely to children.

St. Jude Children's Research Hospital
Since opening 50 years ago, St. Jude Children's Research Hospital has played a pivotal role in pushing overall U.S. pediatric cancer survival rates from 20 to 80 percent. Founded by the late entertainer Danny Thomas, St. Jude is the first and only National Cancer Institute-designated Comprehensive Cancer Center devoted solely to children. St. Jude is also a leader in research and treatment of life-threatening blood disorders and infectious diseases in children. No family ever pays St. Jude for the care their child receives. To learn more, visit www.stjude.org. Follow us on Twitter @StJudeResearch.

SOURCE St. Jude Children's Research Hospital