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.
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.”
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 know whether the precision cancer medicine
approach will decrease side effects or increase effectiveness.
Precision medicine treatments, in both adults and children, target a tumor's specific mutation:
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
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
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.
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.
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.
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.
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
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 firstname.lastname@example.org.
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.
Dr. Stuart Orkin, Chair of Pediatric Oncology, describes the unparalleled resources available at Dana-Farber/Boston Children's.