A Non-Therapeutic Study that aims to establish a cohort of GCT survivors to understand short term and long-term adverse effects of treatment and to conduct molecular analyses to improve risk stratification.
PRIMARY OBJECTIVES: I. Establish a survivorship cohort for pediatric and adolescent GCT comprised of participants from AEPI10N1 and APEC14B1 to assess short term and long-term adverse events associated with GCT treatment. II. Compare somatic variation by tumor histology to identify molecular signatures that improve prognostic risk stratification. III. Identify methylation patterns that predict poor clinical outcomes, including disease relapse and death. OUTLINE: Medical records from pediatric and adolescent Germ Cell Tumor (GCT) participants from AEPI10N1 and APEC14B1 will be used to obtain treatment information and validate self-reported outcomes. Paired normal and tumor samples will be used to evaluate single nucleotide variants, indels, copy number variations, and DNA methylation patterns. Ototoxicity will be determined by central review of audiogram files obtained from the treating institutions and self-reported based on questionnaire data.
Study Type
OBSERVATIONAL
Enrollment
1,151
Questionnaire provide to participant's about their health and quality of life since treatment
Tumor DNA requested from the Biopathology Center
Germline DNA specimens requested from the Biopathology Center or newly collected saliva
Collection and storing of serum/plasma
University of Minnesota
Minneapolis, Minnesota, United States
RECRUITINGOtotoxicity
Ototoxicity as determined by central review of end of therapy audiograms will serve as the primary outcome variable for analyses. Current ototoxicity will be assessed using an app-based hearing assessment. For the app-based audiometry assessment, unilateral hearing loss will be defined as at least one pure tone threshold greater than 25 decibels across at any one of the frequencies from 2,000 Hz- 8,000 Hz to align with the SIOP Boston guidelines, while bilateral hearing loss will be defined as a pure tone threshold \> 25 decibels in both ears at any one of the frequencies.
Time frame: Up to 5 years
Somatic Mutations
Compare somatic variation by tumor histology to identify molecular signatures that improve prognostic risk stratification. Somatic mutations will be identified by comparing tumor samples to normal samples. Risk stratification will be based on event free survival, defined as the time from diagnosis to relapse or death.
Time frame: Up to 5 years
Methylation
Compare the association between DNA methylation patterns and relapse or death. Mixed-effects regression models will be used to test for association between methylation beta values and poor outcomes. The outcome will be defined as a binary variable with a value of one if the patient experienced a relapse or death event and zero otherwise.
Time frame: Up to 5 years
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