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In January 2010, St. Jude Children’s Research Hospital and the Washington University School of Medicine (St. Louis, MO) embarked on a 3-year collaboration termed the Pediatric Cancer Genome Project (PCGP). The goal of this international effort was to sequence the genomes of 600 pediatric tumors and matched non-tumor DNA samples from patients with the most aggressive forms of cancers. By comparing tumor DNA with normal germline DNA in each patient, investigators hoped to identify the genetic abnormalities that cause those cancers.
The results from the PCGP were expected to provide fundamental insights into the genetic lesions that drive the formation of pediatric cancer. These data in turn would catalyze research both within St. Jude and across the world on pediatric malignancies and would ultimately significantly improve our ability to diagnosis, risk stratify, and treat patients with therapies specifically targeted to the driver mutations.
The PCGP Steering Committee gave priority to sequencing those childhood cancers that are poorly understood and the most difficult to cure. To elucidate the functional and clinical relevance of the mutations identified in these diseases and translate that data into clinical use, multidisciplinary teams of genomic and computational experts, oncologists, pathologists, molecular and cellular biologists, chemists, pharmacologists, and other experts were formed.
Here we report results from the genomic analyses of hematologic malignancies (i.e., high-risk leukemias), brain tumors (i.e., diffuse intrinsic pontine glioma and medulloblastoma), and solid tumors (i.e., retinoblastoma, rhabdomyosarcoma, and neuroblastoma). Plans to move forward with Phase II of the PCGP are also presented. The cutting-edge technologies and algorithms that have been developed to accurately analyze the wealth of data generated by the PCGP are described in Biotechnology Development for the Pediatric Cancer Genome Project.
To improve treatment and ultimately cure childhood cancer, a multidisciplinary team of more than 100 St. Jude investigators and staff, as well as numerous researchers at other institutions, embarked on a 3-year journey to discover the genetic bases of the most aggressive childhood cancers. Their efforts have resulted in new directions for research on high-risk leukemias, brain tumors, and solid tumors and the development of new technologies and cutting-edge computational methods. The PCGP has advanced cancer research in countless ways, some of which may not be realized for years to come.