Duke Children’s pediatric hematology-oncology specialist David Van Mater, MD, PhD, created a program to better support children with cancer predisposition syndromes and their families by developing a clinical pathway to genetic testing, monitoring, and care.

“I started monitoring children with neurofibromatosis type 1 and type 2, and over the last four years, we have developed dedicated processes and care pathways to perform germline genetic testing and offer surveillance programs for several cancer predisposition syndromes,” says Van Mater. 

Van Mater has unique expertise in managing cancer predisposition syndromes, including Li-Fraumeni syndrome, DICER1 syndrome, POT1 tumor predisposition syndrome, and Von Hippel-Lindau syndrome. Up to 10% of pediatric cancers are associated with a cancer predisposition syndrome, and many families have trouble finding a specialist to manage surveillance for them. “We fill that void at Duke,” says Van Mater.

An important aspect of the surveillance program is close collaboration with multidisciplinary 
teams, including genetic counselors, pediatric and adult oncologists, pediatric radiologists, and 
others. Van Mater regularly attends Duke Cancer Institute tumor board meetings, and 
sometimes adult patients present with a cancer or syndrome that might have implications 
for their children. “Our program offers germline genetic testing for their children,” he says.

The route to diagnosing a cancer predisposition syndrome can also run in the opposite direction. A child may be positive for a syndrome, which triggers the recommendation that a parent receive germline genetic testing. Van Mater adds, “In some cases, I see adults too in close collaboration with adult oncology colleagues.”

At Duke Children’s, multidisciplinary care is tailored to the patient. “Each collaboration is unique to the specific patient population and the syndrome,” says Van Mater. 

The standard of care surveillance for Li-Fraumeni syndrome is an annual brain and full body MRI, as well as ultrasounds every three months to screen for adrenocortical tumors. Van Mater collaborated with pediatric radiology colleagues to implement full-body MRI surveillance protocols aligned with the National Comprehensive Cancer Network’s screening guidelines. 

Surveillance plans differ for patients with DICER1 syndrome, who have a high risk of pleuropulmonary blastoma, a rare pediatric lung cancer, and benign cystic nephromas. For patients with neurofibromatosis, surveillance is focused on screening for malignant peripheral nerve sheath tumors (MPNSTs) and other tumors.

Duke Children’s is committed to continued research on cancer predisposition syndromes and implementing the latest evidence-based testing and surveillance guidelines. “As more data become available, we will continue to elevate the level of care we provide to patients,” says Van Mater. “Patients value that expertise, especially with rare syndromes.” 

Duke Children’s is also at the forefront of pediatric cancer treatments that target specific gene mutations that drive tumor growth. “If patients in the program develop cancer, then in some cases we have treatments that target the genetic cause of their cancer predisposition syndrome to inhibit cancer growth,” says Van Mater. This area of medicine will expand with more clinical trials, bringing more treatment options to patients.