St. Jude – Washington University Pediatric Cancer Genome Project

Critical mutations identified in rare low-grade brain tumors

We discovered key mutations that drive the growth of rare brain cancers called low-grade gliomas and glioneuronal tumors. Potential therapies targeting some of these mutations are already being tested in clinical trials. The discovery may also help improve diagnosis of these tumors.

Original article: Acta Neuropathologica, January 2016
News release: Sequencing reveals genetic alterations for uncommon brain tumors in children

An elegant app for mining cancer genome data

We developed a Web-based application, ProteinPaint, that makes it easy for scientists to visualize and explore cancer genome data. The tool includes information on nearly 27,500 mutations from more than 1,000 pediatric patients with 21 cancer subtypes. ProteinPaint is freely available to the research community.

Original article: Nature Genetics, December 2015
News release: St. Jude researchers develop powerful interactive tool to mine data from cancer genome

Defining the genetic causes of childhood cancer

In a large-scale, landmark study, we found that nearly one out of 10 childhood cancer patients was born with an increased genetic risk for cancer. We also discovered unexpected links between adult cancer genes and childhood disease.

Original article: New England Journal of Medicine, November 2015
News release: New study suggests more than 8 percent of children with cancer have genetic predisposition  

A dramatically improved tool for detecting alterations in tumors

We developed CONSERTING, a new computer tool for identifying mutations called copy number alterations (CNAs). The tool finds CNAs, which are involved in many cancers, with much higher accuracy and sensitivity than other techniques. CONSERTING is freely available to the research community.

Original article: Nature Methods, June 2015
News release: Scientists dramatically improve method for finding common genetic alterations in tumors

Large genetic alteration may hold key to treating aggressive infant leukemia

We found that a highly aggressive form of leukemia in infants has surprisingly few mutations beyond a known chromosomal rearrangement that affects the MLL gene. The findings suggest that targeting the alteration is likely the key to improved survival. The study is the most comprehensive analysis yet of this rare subtype of pediatric acute lymphoblastic leukemia (ALL).

Original article: Nature Genetics, April 2015
News release: Chromosomal rearrangement is the key to progress against aggressive infant leukemia

A first genome-wide look at childhood adrenocortical tumors

We pinpointed key mutations involved in pediatric adrenocortical tumors, which had never before been analyzed on a genomic scale. Genomic alterations affecting the genes TP53 and IGF2 were found to occur early in tumor growth, pointing to a key role in triggering tumor development. The results may help clinicians identify children with the most aggressive forms of the disease and lead to improved treatments.

Original article: Nature Communications, March 2015
News release: Researchers map "genomic landscape" of childhood adrenocortical tumors for the first time

Sun damage linked to childhood skin cancer

We found the first genetic evidence that sun damage contributes to melanoma in children and teens, underscoring the importance of starting sun protection early. We also found that melanoma in some teen patients has many of the same genetic alterations as conventional melanoma in adults and is likely to respond to the same therapy.

Original article: Journal of Investigational Dermatology, March 2015
News release: Sun damage causes genetic changes that predispose children and adolescents to melanoma

Understanding how leukemia cells survive chemotherapy

In collaboration with the Children’s Oncology Group and the TARGET initiative, we discovered key details of how acute lymphoblastic leukemia (ALL) cells mutate to survive chemotherapy. The findings may improve early detection of mutations that drive relapse of the disease.

Original article: Nature Communications, March 2015
News release: Scientists trace genomic evolution of high-risk leukemia

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