G4K: Genomes for Kids

Brief Summary

The development of next generation sequencing (NGS) techniques, including whole genome sequencing (WGS), whole exome sequencing (WES) and RNA sequencing, has revolutionized our ability to query the molecular mechanisms underlying tumor formation. Through the Pediatric Cancer Genome Project (PCGP), we have successfully used NGS approaches to evaluate more than 1,000 pediatric cancers. These and other studies have shown genomic approaches can accurately classify tumors into distinct pathologic and prognostic subtypes and detect alterations in cellular pathways that may serve as novel therapeutic targets. As a result of our research, we routinely offer clinical genomic testing of tumor and germline to patients at St. Jude.

In this protocol, we will offer all oncology patients the opportunity to undergo germline genetic testing of 150 cancer predisposition genes and explore how identified mutations in these genes influence clinical presentation and outcome. We will also assess patient and family attitudes about genetic testing.

Primary Objectives

• To use clinical genomic sequencing to define the prevalence and spectrum of germline mutations in cancer predisposition genes in children with cancer
• To correlate germline genomic information with clinical presentation, tumor genomic findings, treatment response, and outcome

Exploratory Objectives

• To generate and analyze data describing the patient/parent perceptions of genomic investigations and research at various time points throughout the study
• To generate and analyze data surrounding the return of genomic sequencing results, examine patient/parent understanding of these results and assess the impact of results on patients and families
• To determine the feasibility and reliability of performing whole exome sequencing WES and RNA sequencing on derivatives from formalin-fixed, paraffin-embedded (FFPE) tumor samples alongside the analysis of matched frozen tumor and germline samples

Eligibility Criteria

Inclusion criteria include:

St. Jude patients with:

• Solid or liquid tumor (benign or malignant)

Patients who have no tumor tissue may enroll using only a germline sample.

Exclusion Criteria include:

• History of hematopoietic stem cell transplantation or other condition that would result in hematopoietic cell DNA failing to match host tissue DNA
• Does not wish to learn his or her germline sequencing results of the 150-gene panel

Study Sites

St. Jude Children’s Research Hospital, Memphis, Tennessee

About this study

Genomes for Kids (G4K) is a research study for children and teens who have been diagnosed with a solid or a liquid tumor.

A genome is a person’s complete set of genes. Researchers are using a new technology called “genomic sequencing” to study many genes at the same time. This process of genetic testing looks for changes in genes, also called genetic mutations. These changes may affect how diseases, such as tumors, develop.

In this study, the researchers will use genomic sequencing to learn about your child’s healthy cells.

Purpose of this clinical trial

The main goal of this study is to learn more about the reasons childhood tumors form and how to treat them better.

Eligibility overview

St. Jude patients with:

• Solid or liquid tumor (benign or malignant)