Abstract 6376: Establishment of the Consortium for Childhood Cancer Predisposition and the Childhood Cancer Predisposition Study
Authors: Villani Anita , Brodeur Garrett M. , Diller Lisa R. , Edgerton Chloe , Kamihara Junne , Kohlmann Wendy , MacFarland Suzanne P. , Maese Luke , Malkin David , Nichols Kim E. , Perrino Melissa R. , Plon Sharon E. , Rednam Surya , Porter Christopher C. 
Published: March 2024

Background: Genetic predisposition contributes to a much higher proportion of cancer in children than previously appreciated. This creates a unique opportunity to develop improved methods to identify children at increased risk for cancer, enable early detection or prevention of tumors, and improve cure rates with decreased morbidity. However, several challenges have impeded successful research and systematic approaches to the care of children with cancer predisposition.

Methods: We established the Consortium for Childhood Cancer Predisposition (C3P), currently comprised of seven large pediatric institutions in North America. The long-term goal of C3P is to improve outcomes for children with genetic susceptibility to cancer through collaborative research and data sharing. To this end, we have developed the Childhood Cancer Predisposition Study (CCPS), a multicenter registry and biorepository, to achieve three main aims: 1) Establish and maintain the infrastructure for recruitment, participation, collection and sharing of clinical data and biological samples for children with cancer predisposition syndromes (CPS); 2) Define the spectrum of disease in children with CPS and explore the unique characteristics and management approaches of CPS-related tumors compared to their sporadic counterparts; and 3) Evaluate the clinical impact and effectiveness of standard and emerging tumor surveillance strategies.

Results: The CCPS opened to enrollment in May, 2021 and is currently recruiting at 3 member sites. To date, 276 primary subjects and 44 family members have been enrolled, 211 in the last year. In total, 37 different cancer predisposition diagnoses are represented among participants, including those that are more prevalent, e.g., Li-Fraumeni syndrome (n=42), DICER1 syndrome (n=27), and PTEN Hamartoma Syndrome (n=21), and those which are very rare, e.g., Rothmund-Thomson syndrome (n=2). There is excellent uptake on obtaining samples, with the CCPS Biorepository at Emory University receiving biospecimens from 261 subjects to date, including constitutional DNA (n=261), frozen peripheral blood mononuclear cells (n=32), and plasma samples for ctDNA analysis (n= 26).

Conclusions: C3P has established the infrastructure to facilitate comprehensive collaborative work to improve outcomes for children with cancer predisposition, which represent a wide variety of disorders. Future efforts will include the development of innovative strategies to promote recruitment beyond the primary C3P sites and the support of additional clinical and biological studies of specific CPS.

Citation Format: Anita Villani, Garrett M. Brodeur, Lisa R. Diller, Chloe Edgerton, Junne Kamihara, Wendy Kohlmann, Suzanne P. MacFarland, Luke Maese, David Malkin, Kim E. Nichols, Melissa R. Perrino, Sharon E. Plon, Surya Rednam, Christopher C. Porter. Establishment of the Consortium for Childhood Cancer Predisposition and the Childhood Cancer Predisposition Study [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 6376.