Because of her family history, Ellie had genetic testing shortly after being born in fall 2021, and this testing revealed she had DICER1 syndrome, a genetic disorder associated with an increased risk for developing tumors that may be benign or malignant. Ellie receives regular screening at Children's Hospital of Philadelphia’s (CHOP) Cancer Predisposition Program, as surveillance testing can detect cancers early, when they are more easily treated.

When Ellie’s mother, Erin, was in her early teens, a benign nodule was found on her thyroid. Since Erin’s mother also had thyroid cancer, Erin began being seen regularly at Penn Medicine’s Cancer Risk Evaluation Program. When an additional nodule was found, Erin’s thyroid was removed.

“My mom’s mom and two of my mom’s six siblings all had thyroid nodules,” Erin explains. “We knew there must be some genetic component.” Other members of Erin’s extended family were then diagnosed with cancer, including some types that are more aggressive than thyroid cancer. When one of those relatives underwent genetic testing, it revealed a DICER1 gene mutation.

DICER1 found in multiple family members

At this point, Erin was pregnant with Ellie and fraternal twin Emma. Erin and many of her relatives underwent genetic testing, and several were found to have a DICER1 mutation, including Erin and two of her three siblings. A person carrying a mutation in one copy of the DICER1 gene has a 50% chance of passing this same alteration onto each of their future children. “Penn said that as soon as the babies were delivered, they would connect us with CHOP’s Predisposition Program,” says Erin. After the twins were born, it was found that Ellie had a DICER1 mutation but Emma did not.

Since having the syndrome means an increased risk for developing tumors in the lungs, kidneys, ovaries, thyroid and several other locations in the body, Ellie comes to CHOP’s Cancer Predisposition Program, where her team includes Program Director Garrett Brodeur, MD, and genetic counselor Sarah Baldino, MS, LCGC. Regular and comprehensive screenings assure that if Ellie ever develops any tumors, they will be detected early when they are small and easier to treat. As Erin says when considering the prevalence of DICER1 syndrome in her family, “It’s always better to know.”