NCT06054295

Somatic Mosaicism in Twins Discordant for Childhood Cancer

Somatic Mosaicism in Twins Discordant for Childhood Cancer: a Pilot Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Children's Oncology Group · Network
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed 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.

Conditions

• Pediatric Central Nervous System Tumor
• Central Nervous System Tumor
• Discordant Twin
• Somatic Mutation

Interventions

Type	Name	Description
OTHER	Biospecimen collection	Collection of both blood and saliva samples from participants at the time of study enrollment
OTHER	Questionnaire Administration	The brief questionnaire will assess health history, demographics, environmental exposures, family history of cancer, and birth characteristics.

Timeline

• Start date: 2024-06-03
• Primary completion: 2026-06-30
• Completion: 2027-06-30
• First posted: 2023-09-26
• Last updated: 2025-12-16

Locations

1 site across 1 country: United States