Pediatric Cancer Genome Project

    St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project


    The roots of pediatric cancer are hidden deep within a child’s DNA. The St. Jude—Washington University Pediatric Cancer Genome Project is the world’s most ambitious effort to discover the origins of childhood cancer and seek new cures.

    By comparing the complete genomes from cancerous and normal cells for 700 patients, we have successfully pinpointed the genetic factors behind some of the toughest pediatric cancers. We are now using multiple approaches to analyze cancer genomes even more deeply. We are also developing a state-of-the-art clinical genomics program to better diagnose and treat children with cancer.

    Raw sequence data for all published results, as well as data analysis and visualization tools, are freely available. Explore them today to advance your research and help us find cures.


    Selected Highlights

    Mutations in Ewing sarcoma linked to poor survival
    We found that alterations in two genes, STAG2 and TP53, are associated with reduced survival for patients with Ewing sarcoma, a tumor of the bone and soft tissue. The findings are an important step toward improved diagnosis and treatment strategies.
    Original article: Cancer Discovery, November 2014
    News release: Gene sequencing projects link two mutations to Ewing sarcoma subtype with poor prognosis


    Genetic clues lay foundation for new leukemia clinical trial
    We pinpointed genes linked to a leukemia subtype known as Ph-like ALL and discovered that the subtype grows more common with age. We also learned that many patients might benefit from drugs already used to treat adult leukemias. Combined with earlier work, the findings lay the foundation for an upcoming clinical trial.
    Original article: The New England Journal of Medicine, September 2014
    News release: Genomic analysis reveals that high-risk leukemia subtype becomes more common with age


    Mutations tied to brain tumors in young patients
    We found new genetic mutations that occur most often in younger patients with a subgroup of brain tumors known as high-grade gliomas. The findings provide urgently needed drug development leads for this devastating cancer.
    Original article: Nature Genetics, April 2014
    News release: Gene sequencing project discovers mutations tied to deadly brain tumors in young children


    Key gene identified for bone cancer
    We discovered that mutations in the tumor suppressor gene TP53 are likely to play a key role early in the development of osteosarcomas, the most common childhood bone cancer. The study also helps explain why this tumor is often resistant to standard-dose radiation therapy.
    Original article: Cell Reports, April 2014
    News release: Tumor suppressor gene TP53 mutated in 90 percent of most common childhood bone tumor


    Catching a brain tumor culprit
    We identified the most common genetic alteration ever reported in the brain tumor ependymoma, as well as evidence that the alteration drives tumor development. The findings provide a new foundation for diagnosis and treatment of ependymoma and should aid efforts to understand and intervene against other cancers, including adult tumors.
    Original article: Nature, February 2014
    News release: Gene sequencing project discovers common driver of a childhood brain tumor


    Potential new uses for existing drugs
    We found the first evidence that rhabdomyosarcoma, a cancer of muscles and other soft tissues, might be sensitive to drugs that enhance a process called oxidative stress. The drugs killed tumor cells growing in the laboratory. Some medications that harness this cellular process are already on the market.
    Original article: Cancer Cell, December 2013
    News release: Gene sequencing project finds family of drugs with promise for treating childhood tumor


    Two mutations to blame for majority of diffuse low-grade gliomas
    We discovered that mistakes in two genes are responsible for more than 50 percent of diffuse low-grade gliomas, a subtype of the most common childhood tumor of the brain and spine. We also found evidence the tumors might be vulnerable to drugs already in development.
    Original article: Nature Genetics, April 2013
    News release: Gene sequencing project finds new mutations to blame for a majority of brain tumor subtype


    Decoding ALS and other degenerative disorders
    We discovered new gene mutations linked to a family of diseases that includes amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The findings could spur new advances in treating some of the most common degenerative disorders of the muscle, brain and bone.
    Original article: Nature, March 2013
    News release: Two new genes linked to amyotrophic lateral sclerosis (ALS) and related disorders


    Uncovering the genetic basis of high-risk leukemias
    We discovered new genetic defects in childhood leukemia subtypes that exhibit dramatic chromosome loss and poor cure rates. We also identified a possible treatment strategy using drugs already used to treat other cancers.
    Original article: Nature Genetics, January 2013
    News release: Genetic basis of high-risk childhood cancer points to possible new drug treatment strategy


    New methods for mining “junk” DNA
    We developed a method to mine the repetitive DNA sequences at the ends of chromosomes for clues about the mistakes fueling cancer and insight into one mutation’s contribution.
    Original article: Genome Biology, December 2012
    News release: Gene sequencing project mines data once considered 'junk' for clues about cancer


    New leads on a rare leukemia subtype
    We discovered a genetic alteration responsible for almost 30 percent of cases of AMKL, an uncommon subtype of childhood leukemia. The finding paves the way for desperately needed treatment advances.
    Original article: Cancer Cell, November 2012
    News release: Gene sequencing project identifies abnormal gene that launches rare childhood leukemia


    Promising drug targets for common childhood brain cancers
    We uncovered new genetic factors behind medulloblastoma, the most common malignant childhood brain tumor. Some of the genes are already the focus of ongoing drug development efforts.
    Original article: Nature, July 2012
    News release: Gene sequencing project identifies potential drug targets in common childhood brain tumor


    Clues about clinical trends seen in nervous system tumor
    We identified a gene mutation that may help explain why outcomes for children with advanced neuroblastoma, a tumor of the nervous system, vary dramatically depending on the child's age at diagnosis.
    Original article: Journal of the American Medical Association, March 2012
    News release: Genome sequencing initiative links altered gene to age-related neuroblastoma risk


    New treatment possibility for eye tumors
    We found new clues about why eye tumors known as retinoblastomas tend to develop rapidly. Based on the findings, we identified a promising treatment lead for this fast-moving cancer.
    Original article: Nature, January 2012
    News release: Gene identified as a new target for treatment of aggressive childhood eye tumor


    Surprising genetic links for a high-risk leukemia
    We found unexpected genetic alterations in a deadly type of childhood leukemia called early T-cell precursor (ETP)-ALL that could change diagnosis and treatment for children with this disease.
    Original article: Nature, January 2012
    News release: Cancer sequencing project identifies potential approaches to combat aggressive leukemia


    Tracing the genetic underpinnings of brain tumors
    We found that a startling 78 percent of the brainstem tumors known as diffuse intrinsic pontine glioma (DIPG) carried changes in two genes not previously linked to cancer.
    Original article: Nature Genetics, January 2012
    News release: Cancer sequencing initiative discovers mutations tied to aggressive childhood brain tumors


    Speeding discovery by improving analysis methods
    We developed a new computational model, CREST, to evaluate mutations and control for potential errors. This algorithm outperforms prior tools so well it is being adopted globally.
    Original article: Nature Methods, June 2011
    News release: Researchers improve method for finding genetic mistakes that fuel cancer