Childhood Cancer Data Initiative Annual Symposium (Abstract Registration): Submission #35

Abstract Submission for Poster Presentation
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Abstract Title:: Analyzing the Impact of CCDI-COG Molecular Characterization Initiative (MCI) on Rare Tumors
Abstract::
Background: The Childhood Cancer Data Initiative (CCDI) in collaboration with the Children’s Oncology Group (COG) offers paired germline and tissue sequencing for newly diagnosed pediatric rare tumors.  
Methods: Within 6 months of diagnosis of a rare tumor, as defined by the Children’s Oncology Group, individuals 25 years old or younger are eligible for paired germline and tumor tissue exome enhanced sequencing of cancer-associated genes and targeted RNA fusion analysis.  
Results: From 9/22/2022 through 06/30/2025, 697 individuals were enrolled. The most common diagnosis subgroups were thyroid carcinoma (n=168), neuroendocrine tumors (n=71), sex cord-stromal tumors (n=58), and other carcinomas (n=136).  As of 03/31/2025, 448 paired samples were received (73.4%). Clinically actionable (Tier I/II) germline single nucleotide variants (SNV) and/or copy number variants (CNV) were identified in 108 (24.1%) of patients.The most prevalent germline alterations included SNVs in DICER1 (n=23, 5.1%), TP53 (n=10, 2.2%), RB1 (n=7,1.5%), CHEK2 (n=7, 1.5%), and VHL (n=6, 1.3%).  In addition, 49.6% (n=222) of individuals demonstrated a Tier I/II SNV somatic variant and 51.8% (n=232) had a somatic CNV. Targeted RNA fusion analysis identified oncogenic fusions in 23.6% of tumors, most commonly associated with thyroid cancer or desmoplastic small round cell tumors.
Conclusions: The MCI has improved access to tumor genomic profiling for a wide range of rare tumors across COG centers. Germline cancer predisposition was identified in approximately a quarter of these individuals, highlighting the essential nature of this type of molecular profiling for genetic counseling and improving our understanding and treatment of rare tumors.

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Authors::
1. First Name: Lauren
   Middle Initial: M
   Last Name: Vasta
   Degree(s): MD
   Organization: Walter Reed National Military Medical Center
2. First Name: Jin
   Last Name: Piao
   Degree(s): PhD
   Organization: University of Southern California Keck School of Medicine
3. First Name: Kenneth
   Middle Initial: S
   Last Name: Chen
   Degree(s): MD
   Organization: University of Texas Southwestern
4. First Name: John
   Last Name: Hicks
   Degree(s): MD, PhD
   Organization: Baylor College of Medicine
5. First Name: Erin
   Middle Initial: R
   Last Name: Rudzinski
   Degree(s): MD
   Organization: Indiana University
6. First Name: Kareesma
   Last Name: Parbhoo
   Organization: Institute for Genomic Medicine at Nationwide Children's Hospital
7. First Name: John
   Last Name: Shern
   Degree(s): MD, PhD
   Organization: National Cancer Institute
8. First Name: Subhashini
   Last Name: Jagu
   Degree(s): PhD
   Organization: National Cancer Institute
9. First Name: Gregory
   Last Name: Reaman
   Degree(s): MD
   Organization: National Cancer Institute
10. First Name: Malcolm
    Last Name: Smith
    Degree(s): MD
    Organization: National Cancer Institute
11. First Name: Catherine
    Last Name: Cottrell
    Degree(s): PhD
    Organization: Institute for Genomic Medicine at Nationwide Children's Hospital
12. First Name: Douglas 
    Middle Initial: S
    Last Name: Hawkins
    Degree(s): MD
    Organization: Seattle Children's Hospital and the University of Washington School of Medicine
13. First Name: Kris Ann
    Middle Initial: P
    Last Name: Schultz
    Degree(s): MD
    Organization: Children's Minnesota
14. First Name: Theodore
    Middle Initial: W
    Last Name: Laetsch
    Degree(s): MD
    Organization: Children's Hospital of Philadelphia

Presenting Author:: Lauren M. Vasta
Institution:: Walter Reed National Military Medical Center
Email Address:: lauren.vasta@gmail.com