Neoplasms

All Conditions

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Rare Diseases

Carcinoma

Endodermal Sinus Tumor

Teratoma

Germinoma

Carcinoma, Embryonal

Choriocarcinoma

Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type

Trophoblastic Neoplasms

Adenocarcinoma

Neoplasms, Glandular and Epithelial

Pregnancy Complications

Pregnancy Complications, Neoplastic

Urogenital Diseases

Female Urogenital Diseases

Female Urogenital Diseases and Pregnancy Complications

Germ Cells Tumors

Central Nervous System Germinoma

Embryonal Carcinoma

Testicular Yolk Sac Tumor

Children and adolescents with a germ cell tumor, previously enrolled on APEC14B1 or AEPI10N1 who allow access to medical records (including audiograms), grant permission to: evaluate of all of their DNA, place their genetic and health information in scientific databanks, and collect a blood sample at a routine clinic/home visit, as well as complete a questionnaire about your health and quality of life since treatment.

Questionnaire provide to participant's about their health and quality of life since treatment

Questionnaire Administration

Tumor DNA requested from the Biopathology Center

Tumor Specimen Collection

Germline DNA specimens requested from the Biopathology Center or newly collected saliva

Germline DNA Samples

Blood Sample Collection

Jenny Poynter, PhD

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.

* Tumor Specimen Collection
* Germline DNA Samples (saliva)
* Blood Sample Collection (serum/plasma)

Molecular Epidemiology of Pediatric Germ Cell Tumors

Pediatric Germ Cell Tumors: Outcomes, Genomics and Epigenetics

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.

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.

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.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Molecular Epidemiology of Pediatric Germ Cell Tumors	NCT05564026	Germ Cell Tumor Germinoma Teratoma Embryonal Carci... Yolk Sac Tumor Choriocarcinoma Mixed Germ Cell... Late Effects Pediatric Germ ...	Questionnaire A... Tumor Specimen ... Germline DNA Sa... Blood Sample Co...	-	Children's Oncology Group
Molecular Epidemiology of Pediatric Germ Cell Tumors	NCT05564026	Germ Cell Tumor Germinoma Teratoma Embryonal Carci... Yolk Sac Tumor Choriocarcinoma Mixed Germ Cell... Late Effects Pediatric Germ ...	Questionnaire A... Tumor Specimen ... Germline DNA Sa... Blood Sample Co...	-	Children's Oncology Group

Spots Global Cancer Trial Database for germline dna samples