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

Submission information
Submission Number: 35
Submission ID: 148011
Submission UUID: ba1644fe-5e04-4bd1-8cee-e5ea40851b4e

Created: Mon, 08/04/2025 - 15:11
Completed: Mon, 08/04/2025 - 15:19
Changed: Mon, 08/04/2025 - 15:19

Remote IP address: 10.208.24.148
Submitted by: Anonymous
Language: English

Is draft: No
Abstract Submission for Poster Presentation
Analyzing the Impact of CCDI-COG Molecular Characterization Initiative (MCI) on Rare Tumors
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.
  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
Lauren M. Vasta
Walter Reed National Military Medical Center