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.
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.
None
Newly diagnosed same sex twins with pediatric central nervous system (CNS) tumors
Family-based
Prospective
Biospecimen collection
Other interventionCollection of both blood and saliva samples from participants at the time of study enrollment
Questionnaire Administration
Other interventionThe brief questionnaire will assess health history, demographics, environmental exposures, family history of cancer, and birth characteristics.
Compare the prevalence of somatic mosaicism in classic cancer-associated genes in monozygotic (MZ) twins discordant for childhood brain tumors.
Sequence blood and saliva DNA samples from 25 MZ twin pairs using a panel of 94 known cancer associated genes.
Compare the profile of mutations detected in DNA extracted from pre- and post-treatment blood samples from a subset of CNS tumor patients.
Determine the frequency of somatic mosaicism in twins discordant for CNS tumors. Will use an exact test of proportions to determine whether the affected twin is more likely to have a mosaic mutation. The comparison of pre-treatment and post-treatment samples in the CNS tumor cases will include a descriptive comparison of the mutations identified in each sample
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Children's Oncology Group
Lead sponsor
National Cancer Institute (NCI)
Collaborator
