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

serial: '35'
sid: '148011'
uuid: ba1644fe-5e04-4bd1-8cee-e5ea40851b4e
uri: '/nci/ccdisymposium/abstract?cid=eb_govdel_ccdi_events'
created: '1754334705'
completed: '1754335181'
changed: '1754335181'
in_draft: '0'
current_page: ''
remote_addr: 10.208.24.148
uid: '0'
langcode: en
webform_id: ccdi_symposium_abstract
entity_type: node
entity_id: '2139'
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sticky: '0'
notes: ''
metatag: meta
data:
  authors_:
    - add_author_degree: MD
      add_author_first_name: Lauren
      add_author_last_name: Vasta
      add_author_middle: M
      add_author_organization: 'Walter Reed National Military Medical Center'
    - add_author_degree: PhD
      add_author_first_name: Jin
      add_author_last_name: Piao
      add_author_middle: ''
      add_author_organization: 'University of Southern California Keck School of Medicine'
    - add_author_degree: MD
      add_author_first_name: Kenneth
      add_author_last_name: Chen
      add_author_middle: S
      add_author_organization: 'University of Texas Southwestern'
    - add_author_degree: 'MD, PhD'
      add_author_first_name: John
      add_author_last_name: Hicks
      add_author_middle: ''
      add_author_organization: 'Baylor College of Medicine'
    - add_author_degree: MD
      add_author_first_name: Erin
      add_author_last_name: Rudzinski
      add_author_middle: R
      add_author_organization: 'Indiana University'
    - add_author_degree: ''
      add_author_first_name: Kareesma
      add_author_last_name: Parbhoo
      add_author_middle: ''
      add_author_organization: "Institute for Genomic Medicine at Nationwide Children's Hospital"
    - add_author_degree: 'MD, PhD'
      add_author_first_name: John
      add_author_last_name: Shern
      add_author_middle: ''
      add_author_organization: 'National Cancer Institute'
    - add_author_degree: PhD
      add_author_first_name: Subhashini
      add_author_last_name: Jagu
      add_author_middle: ''
      add_author_organization: 'National Cancer Institute'
    - add_author_degree: MD
      add_author_first_name: Gregory
      add_author_last_name: Reaman
      add_author_middle: ''
      add_author_organization: 'National Cancer Institute'
    - add_author_degree: MD
      add_author_first_name: Malcolm
      add_author_last_name: Smith
      add_author_middle: ''
      add_author_organization: 'National Cancer Institute'
    - add_author_degree: PhD
      add_author_first_name: Catherine
      add_author_last_name: Cottrell
      add_author_middle: ''
      add_author_organization: "Institute for Genomic Medicine at Nationwide Children's Hospital"
    - add_author_degree: MD
      add_author_first_name: 'Douglas '
      add_author_last_name: Hawkins
      add_author_middle: S
      add_author_organization: "Seattle Children's Hospital and the University of Washington School of Medicine"
    - add_author_degree: MD
      add_author_first_name: 'Kris Ann'
      add_author_last_name: Schultz
      add_author_middle: P
      add_author_organization: "Children's Minnesota"
    - add_author_degree: MD
      add_author_first_name: Theodore
      add_author_last_name: Laetsch
      add_author_middle: W
      add_author_organization: "Children's Hospital of Philadelphia"
  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.
  abstract_title_: 'Analyzing the Impact of CCDI-COG Molecular Characterization Initiative (MCI) on Rare Tumors'
  email_address_: lauren.vasta@gmail.com
  institution_: 'Walter Reed National Military Medical Center'
  presenting_author_: 'Lauren M. Vasta'