Experts recommend genetic counseling for young sarcoma patients

Genetic testing may help sarcoma patients and their famlies know their risk of other cancers later in life

If your child is diagnosed with a sarcoma—a tumor in connective tissue like muscles or bones—it’s natural to become totally focused on his immediate recovery. But what if beating sarcoma wasn’t the only time your child might face cancer?

Data shows that there is a link between sarcomas and Li-Fraumeni syndrome, a rare condition that raises a person’s risk of developing one or more cancers to as high as 85 percent. Cancers typically diagnosed in patients with Li-Fraumeni syndrome include breast cancer, sarcomas, brain tumors, acute leukemia and adrenal cortical carcinoma. Recently, the list has been expanded to include colon cancer and stomach cancer.

Li-Fraumeni syndrome may be rare, but the connection has led genetic specialists at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) to recommend that all child sarcoma patients be offered genetic counseling for Li-Fraumeni syndrome.

“Identification of an inherited gene alteration can sometimes help guide current treatment decisions,” says Carly Grant, MS, CGC, a genetic counselor of the Pediatric Cancer Risk Program at DF/CHCC, one of the first programs in the country that provides multidisciplinary consultative care to patients and their families whose condition or family history suggests an increased risk of cancer. “It may also help with early detection and cancer prevention in the future.”

Lisa Diller is studying new screening options for Li-Fraumeni syndrome.

There are benefits and drawbacks  to genetic testing for the mutation linked to Li-Fraumeni syndrome, but doing so allows genetic counselors to provide families with the information they need to make informed decisions about their child’s care.

For example, since people with Li-Fraumeni syndrome are especially sensitive to radiation, which has been linked to the development of future cancers in some patients, knowing whether or not a child carries a mutation may help the care team weigh the benefits and risks of radiation treatment.

And since the mutation linked to Li-Fraumeni syndrome is typically inherited, there may be other family members at risk who would also have the option of being tested. Children who test positive can then be more carefully monitored by their physicians, while adults may be advised to have screening at an earlier age and more frequently for certain cancers.

In the coming months, Dana-Farber scientists led by Lisa Diller, MD, will be launching a new study testing the effectiveness of rapid full-body MRI scans for children and adults with Li-Fraumeni syndrome. The goal is to learn how to find and treat cancers effectively in people with Li-Fraumeni syndrome.

Diller and other Dana-Farber/Children’s Hospital Cancer Center scientists are also working to launch a national study on other screening options.

“Genetic testing may provide important information about cancer risks and medical management options that can be invaluable to a patient and their team of oncologists and specialists,” Grant says.

If you’re interested in discussing the option of genetic counseling for your child, please contact the Pediatric Cancer Risk Program at 617-632-4298 or email

A more in-depth version of this blog originally ran on Insight, the official blog of Dana-Farber Cancer Institute. See that version here.