There is increasing evidence that a significant proportion of children with Central Nervous System (CNS) cancers harbor underlying cancer predisposing germline mutations. For example, in a large study of pediatric cancer (Grobner et al and Ma et al, Nature 2018), approximately 8% of patients were shown to have underlying cancer predisposition, with a high proportion of these patients having Central Nervous System (CNS) tumors. This was especially the case in patients with high-grade gliomas, ATRTs, SHH medulloblastomas, and retinoblastomas. Additionally, this study uncovered predisposition syndromes in non-classic tumors and identified new cancer predisposition genes. The frequency of hereditary cancer predisposition in patients with CNS tumors is likely greater than in the general oncology population, given smaller studies of sequencing in CNS tumors such as in Kline and Joseph et al (Neuro-Oncology 2016).
What are the goals of this project?
Through query of paired somatic and germline samples available through the CBTN biobank, we will use somatic/germline sequencing results, along with the patient’s clinical data and family history, to fully define the genotype/phenotype correlation in patients with CNS tumors.
What is the impact of this project?
Identification of germline cancer predisposition is not only vital for the care of the patient, but also for family members who may also be affected.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
PI: Suzanne McFarland
Children’s National Hospital
Angela Waanders, MD, MPH
Specialties:Hematology, Oncology, Neuro-Oncology & Stem Cell TransplantationEducation: Tulane University School of Medicine, 2003Postgr
Ann & Robert H. Lurie Children’s Hospital of Chicago