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Somatic Mosaicism in Twins Discordant for Childhood Cancer

Somatic Mosaicism in Twins Discordant for Childhood Cancer

Recruiting
18 years and younger
All
Phase N/A

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Overview

Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date. This pilot study will focus on twins with central nervous system (CNS) tumors who are identified through the Children's Oncology Group's Project: EveryChild (PEC) registry or volunteer.

Description

PRIMARY OBJECTIVES:

I. To conduct a descriptive study of same sex twins (MZ and DZ) discordant for childhood CNS tumors identified through the Children's Oncology Group Project:EveryChild registry.

II. To compare the prevalence of somatic mosaicism in classic cancer-associated genes in monozygotic (MZ) twins discordant for childhood brain tumors. In our pilot study, we will sequence blood and saliva DNA samples from 25 MZ twin pairs using a panel of 94 known cancer associated genes.

SECONDARY OBJECTIVES:

I. To compare the profile of mutations detected in DNA extracted from pre- and post-treatment blood samples from a subset of CNS tumor patients. The purpose of this aim is to ensure that differences in somatic mosaicism detected in twin pairs are not caused by cancer therapy.

Outline

Twins with CNS tumors will undergo blood and saliva DNA samples with the goal is to learn more about genetic differences that may lead to CNS tumor development.

Eligibility

Inclusion Criteria:

  • Newly diagnosed patient with CNS tumor or have recurrent disease and enrolled on APEC14B1.
  • Patient must have same sex twin. Note: (history of) treatment on a COG therapeutic trial is not required.
  • Patients must be diagnosed at < 19 years of age at the time of diagnosis.
  • A family is eligible to participate if the twin with the CNS tumor is deceased but has a blood sample banked through APEC14B1.
  • All patients and/or their parents or legal guardians must provide informed consent. Assent will be obtained for participants between the ages of 8-17 years.
  • All institutional, FDA, and NCI requirements for human studies must be met.

Study details
    Pediatric Central Nervous System Tumor
    Central Nervous System Tumor
    Discordant Twin
    Somatic Mutation

NCT06054295

Children's Oncology Group

5 July 2025

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