Childhood Cancer Data Initiative Annual Symposium (Abstract Registration)

Abstract Submission

Attendees interested in presenting a poster should complete the form below to submit their work. A confirmation email will be sent upon successful submission.

Best Abstract Award

Abstracts will be evaluated based on the following criteria:

Significance and Impact:
- Relevance of the topic and its potential contribution
- Evidence of innovative data use and/or potential to increase relevant data for sharing in the CCDI Ecosystem
Scientific Rigor:
- Clearly stated research question
- Well-suited methodologies to address the problem
- Detailed experimental methods
Clarity: Content is well-organized, easy to follow, and effectively communicated

The deadline for abstracts for poster presentations closes on August 21, 2026. If you have questions about submitting abstracts for poster presentations, contact NCIChildhoodCancerDataInitiative@mail.nih.gov.

Submission information

Submission Number: 35

Submission ID: 148011

Submission UUID: ba1644fe-5e04-4bd1-8cee-e5ea40851b4e

Submission URI: /nci/ccdisymposium/abstract?cid=eb_govdel_ccdi_events

Submission Update: /nci/ccdisymposium/abstract?cid=eb_govdel_ccdi_events&token=k77AFFV9swWPaOy7iBrjmpMlSn1nxjgYpYROEcb2juI

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

Webform: Childhood Cancer Data Initiative Annual Symposium (Abstracts Submission)

Submitted to: Childhood Cancer Data Initiative Annual Symposium (Abstract Registration)

Abstract Submission for Poster Presentation

Poster size should not exceed 4 ft. (height) by 6 ft. (width)

Abstract Title:

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.

Authors:

Please use the following formatting for these degrees: M.D. Ph.D. MPH

First Name	Middle Initial	Last Name	Degree(s)	Organization	Weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight
First Name	Middle Initial	Last Name	Degree(s)	Organization	Item weight

more items

Presenting Author:

Institution:

Email Address:

Confirm email