Clinical trial NCT01434355: DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings
Official title: Molecular Epidemiology of Pediatric Germ Cell Tumors
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Childhood Malignant Ovarian Germ Cell Tumor
Childhood Malignant Testicular Germ Cell Tumor
Ovarian Choriocarcinoma
Ovarian Embryonal Carcinoma
Ovarian Mixed Germ Cell Tumor
Ovarian Teratoma
Ovarian Yolk Sac Tumor
Testicular Choriocarcinoma
Testicular Embryonal Carcinoma
Testicular Seminoma
Testicular Teratoma
Testicular Yolk Sac Tumor
Lead sponsor: Children's Oncology Group
Sponsor class: NETWORK
Collaborators: name: National Cancer Institute (NCI)
First posted: 2011-09-14
Enrollment: 932
Sex: ALL
Maximum age (years): 19
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE

Brief summary: This research trial studies deoxyribonucleic acid (DNA) samples from younger patients with germ cell tumor and their parents or siblings. Studying samples of tumor tissue and saliva from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.

Detailed description: OBJECTIVES:

I. To evaluate associations between genetic variation and pediatric germ cell tumor (GCT) using a case-parent triad design to identify variants in four genes, KITLG, SPRY4, BAK1, and DMRT1, associated with pediatric GCT.

II. To evaluate associations between genetic variation and pediatric GCT using a case-parent triad design to include targeted genotyping of single nucleotide polymorphisms (SNPs) in selected key pathways essential for normal in utero germ cell development, specifically genes involved in survival of germ cells during migration, apoptosis, and cell cycle control.

III. To explore inter- and intratumoral heterogeneity in DNA methylation by tumor histology.

OUTLINE: This is a multicenter study.

Patients and parents or siblings undergo saliva sample collection. DNA extracted from saliva samples and from patients' archived tumor tissue samples is genotyped and analyzed by methylation arrays, including methylation-specific polymerasechain reaction (PCR) (pyrosequencing) assays. Genetic variation between pediatric germ cell tumors and parent or sibling is also analyzed. Patients' and family members' health history, demographics, and environmental exposures are collected by questionnaires or telephone interviews. Medical history, such as chronic conditions, prescribed medications and congenital abnormalities, including cryptorchidism, is also collected. Birth characteristics of the child, including birth weight and gestational age, are also captured.

Eligibility criteria: Inclusion Criteria:

* The patient is enrolled on COG-ACCRN07
* The patient has a primary diagnosis of germ cell tumor (GCT) including germinoma (ICCC 9060-9065) teratoma (9080-9084), embryonal carcinoma (9070-9072), yolk sac tumor (9071),choriocarcinoma (9100, 9103, 9104), and mixed GCT (9085, 9101, 9102, 9105) in all sites including the brain and central nervous system and registered with Children's Oncology Group (COG) by a North American member institution
* The patient must be diagnosed with a germ cell tumor between July 1, 2008 and December 31, 2015
* The patient must be \< 20 years of age at the time of diagnosis
* The patient must have at least one biological parent alive and willing to participate

  * In the event that one case parent cannot contribute DNA, a case sibling, defined as the biological brother or sister of the study subject, may donate instead
* All questionnaire respondents must understand English or Spanish
* Concomitant treatment on a therapeutic trial is not required

Primary outcomes:
measure: Pediatric GCT associated with genetic susceptibility
timeFrame: Up to 5 years
Secondary outcomes:
measure: List of genes that distinguish between the three most common histologic subtypes of pediatric GCT: yolk sac tumor, teratoma, and germinoma
timeFrame: Up to 5 years
measure: Validation of array results by pyrosequencing
timeFrame: Up to 5 years
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Childrens Oncology Group
state: Pennsylvania
Study officials:
affiliation: Children's Oncology Group
name: Jenny Poynter
role: PRINCIPAL_INVESTIGATOR
References: