• Precision Medicine

    Dana-Farber/Boston Children’s is at the forefront of a new and expanding approach – called precision or personalized medicine – to treating cancer and blood disorders in children and young adults.

    What is precision cancer medicine?

    Cancer develops when damage to the DNA code in cells causes them to grow and divide uncontrollably, eventually forming malignant tumors. Scientists have discovered that each patient’s cancer is driven by a unique combination of DNA changes, collectively termed its tumor “profile.”

    The goal of precision cancer medicine is to individualize treatments by tailoring them to the genetic characteristics of the patient’s cancer – for example, selecting drugs matched to the tumor profile. In some cancer types, precision cancer medicine has decreased the side effects of treatment and/or increased the effectiveness of treatment. For other cancer types, including many childhood cancers, it is still not known whether the precision cancer medicine approach will decrease side effects or increase effectiveness.

    Precision cancer medicine targets a tumor's specific mutation:

    Illustration: What is precision medicine?

    View the full infographic: What is Precision Medicine?

    Genomic research: Profile

    Dana-Farber Cancer Institute and Brigham and Women’s Hospital offer one of the country’s most comprehensive precision cancer medicine initiatives, called Profile. Any patient coming to Dana-Farber/Boston Children’s (or for adults to Dana-Farber/Brigham and Women’s) for treatment, consultation, or a second opinion can join the Profile research study. Patients simply provide consent for use of tissue samples for research. No additional biopsies or blood draws are required beyond those already taken for diagnosis or treatment.

    precision medicine tumor board Our tumor board meets to review the history,
    pathology, radiology, and genetic alterations
    seen in the tumor from patients participating
    in Profile and iCAT to determine whether new
    trials may be available to the patient.

    All hematological (blood) cancers, solid tumors and brain tumors are studied in the Profile research study. Ultimately, this important research project will result in a database of genetic changes in all types of cancer. The findings of Profile research are advancing scientists’ understanding of the genetic causes of cancer, and how knowing that information may ultimately lead to improved treatment.

    Sequencing of the samples, which is done at the Center for Advanced Molecular Diagnostics at Brigham and Women’s Hospital, involves detailed analysis of 300 genes in tumor cells that have been implicated in, or suspected of, causing cancer. This testing can detect mutations – “typos” in the letters of the DNA code – as well as segments of genetic code that are missing or duplicated, and broken or reshuffled chromosomes.

    This testing is being performed primarily to increase scientific knowledge. However, if an individual’s test reveals information that could be of clinical benefit, those results will be returned to the patient’s doctor – as long as the patient/family indicated an interest in the results when signing up for the study. Some genetic changes, or mutations, indicate that a certain drug will be particularly effective, while other DNA alterations might indicate that the tumor is resistant to specific treatments.

    In certain cases the culprit mutations in a patient’s tumor can serve as “targets” for new designer cancer drugs. Such targeted drugs – unlike conventional chemotherapy – attack specific molecules and processes in cancer cells to shut down their growth, while sparing normal cells and tissues that don’t have these targets.

    iCAT: Individualized Cancer Therapy

    In addition, at Dana-Farber/Boston Children's, pediatric patients with solid tumors that are high risk, recurrent or refractory to conventional therapy were offered the opportunity to participate in the iCAT (individualized cancer therapy) protocol, a study conducted at four pediatric cancer hospitals and led by Dana-Farber/Boston Children's. Patients who participated in this study had their tumor studied for specific genetic alterations that may allow doctors to identify a treatment targeted to their cancer.

    The goal of the study is to determine how often genetic testing can identify abnormalities and, once identified, how often a specific targeted therapy can be paired with that cancer mutation. This study is complete and results are currently being analyzed. The initial analysis suggests that studying tumors in this manner may lead to suggestion for a matched targeted therapy in approximately one third of patients.

    A follow-up study is currently being designed. In the follow-up protocol, Dana-Farber/Boston Children’s researchers will study whether more extensive testing of cancer DNA may help improve treatment. Such testing will involve scanning all of the DNA in a cell that codes for proteins. It is called “whole-exome” sequencing, and potentially can detect DNA changes that hadn’t previously been linked to cancer.

    How can I participate?

    Anyone coming to Dana-Farber/Boston Children’s for diagnosis or treatment – including those seeking a second opinion – is eligible to take part in Profile. Whether seen first at Dana-Farber or at Boston Children’s, patients are asked about their interest in participating by a member of their pediatric oncology medical team or by pediatric oncology research staff.

    Clinical trials

    Building on findings from Profile and iCAT, Dana-Farber/Boston Children’s currently offers several clinical trials based on gene alterations. For more information on these or other clinical trials, search our clinical trials or email us at clinicaltrials@danafarberbostonchildrens.org.

    • 13-180 Phase I LDK378 in patients with ALK alteration
    • 14-110 Phase II of brentuximab or crizotinib in combination with chemotherapy in anapestic large cell lymphoma
    • 12-429 Phase I/IIa dabrafenib in patients with solid tumors with BRAFV600E
    • 11-388 Phase I of RO5185426 for stage IIIC or IV melanoma with BRAFV600E mutation Cyclin-D/CDK4/6/INK4A/Rb pathway
    • 14-324 Phase I EPZ-5676 in relapsed / refractory leukemia with MLL rearrangement
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  • Precision Cancer Medicine

    Dr. Katherine Janeway discusses how precision medicine is transforming cancer treatment.

  • Genetic Testing

    Genetic Testing

    A genetic test can explain why a child or young adult developed cancer or a blood disorder and can help predict whether he/she is at risk for other conditions.