Comprehensive Omics Analysis of Pediatric and Adult Solid Tumors and Establishment of a Repository for Related Biological Studies

Background:

- Laboratory investigators who are studying common childhood cancers are interested in developing a tissue repository to collect and store blood, serum, tissue, urine, or tumors of children who have cancer or adults who have common childhood cancers. To develop this repository, additional samples will be collected from children and adults who have been diagnosed with common childhood cancers such as leukemia and tumors of the central nervous system.

Objectives:

- To collect and store blood, serum, tissue, urine, or tumor samples of children who have cancer or adults who have common childhood cancers.

Eligibility:

• Individuals who have been diagnosed with a common childhood cancer (e.g., leukemia) regardless of patient age.
• Children, adolescents, and adults who have been diagnosed with a type of cancer more commonly found in adults.

Design:

• Extra blood, serum (the liquid part of blood), tissue, urine, or tumor samples will be collected from participants at a time when sampling is required for medical care or as part of a research study.
• No additional procedures will be performed for the sole purpose of obtaining additional tumor tissue, aside from what is required for clinical care.

Study Overview

• Status: Recruiting
• Conditions: Sarcoma; Neuroblastoma; Retinoblastoma; Renal Cancer; Endocrine Tumors

Detailed Description

Background:

-Laboratory-based investigations have contributed to an improved understanding of the biology of cancer and to the development of new therapies for pediatric malignancies.

Objectives:

-Systematic Molecular, Genomic, Proteomic, Metabolomic ("Omic") and other profiling for enrolled subjects where omics refers to mechanistic studies using a set of advanced technologies to capture comprehensive aspects of biological systems providing insights into structure, function and interactions to understand these complex processes and diseases better.

Eligibility:

Pediatric or Adult subjects of any age with one of the following:

• Diagnosis of any tumor or malignancy, pre-malignant disorder or suspected cancer susceptibility familial syndromes, regardless of age
• Individuals without malignancy undergoing surgery, other treatment such as apheresis or normal well visit or routine blood draw as part of standard of care.
• Biological relatives of a subject with a tumor or malignancy (pediatric or adult) or with suspected familial cancer syndrome. Patients enrolled in an approved companion protocol
• Blood and/or tissue specimens that have been previously collected and are available for research analysis
• Biospecimens can be collected with minimal additional risk to the subject during sampling or procedures required for routine patient care.

Design:

• This study will allow for the collection of specimens for a Tissue Repository, and for designated sample investigations including systematic molecular, genomic and proteomic (Omic) profiling, and growth factor and cellular profile investigations.

• Testing activities may include:

  • DNA, RNA and protein extracted from a section of tumor and normal samples; the remainder will be stored.
  • Germ line DNA and RNA extracted from lymphocytes or other normal uninvolved tissue
  • Germ line DNA will be extracted from lymphocytes or other normal uninvolved tissue of relatives of the subject.
  • Xenografts, explant and cell lines established from tumor, pre-malignant and normal samples
  • Tumor samples and samples for circulating tumor cells sent for the establishment of Xenografts and single cell suspension of tumor for drug testing or for monitoring cell free DNA over time
  • Omics (Genomics and Proteomic) studies will be performed
  • Growth factor and cellular profile investigations of bone marrow-derived cell populations to include quantification of hematopoietic progenitor cells (HPCs), endothelial progenitor cells (EPCs), and mesenchymal progenitor cells (MPCs), levels of matrix metalloprotease 2 and 9 (MMP2) and (MMP9), gene expression, growth factor and microvesicle analysis and bone marrow analysis of progenitor cells in blood and tissue.
  • Research tests described in active IRB approved protocols.
  • Immune profiling and stromal profiling of blood, tumor, and normal tissues
  • Immune function studies from blood and normal tumor tissues.
• Utilizing an oversight committee to oversee the receipt and the distribution of unlinked tissues to other investigators.
• Qualitative methodologies will be used to ascertain knowledge, attitudes, beliefs, and behaviors in 25-35 parents/caregivers at NIH concerning the anticipated use of NGS for diagnosing and directing therapy for pediatric cancer and how incidental findings might be returned.
• Expected accrual of 100-150 patients per year.

• Study Type: Observational
• Enrollment (Estimated): 6035

Contacts and Locations

• Study Contact: Name: Donna B Bernstein, R.N.; Phone Number: (240) 760-6189; Email: bernsted@mail.nih.gov
• Study Contact Backup: Name: Rosandra N Kaplan, M.D.; Phone Number: (240) 760-6198; Email: kaplanrn@mail.nih.gov

Study Locations

• United States
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Completed
      • Children's National Medical Center
  • Florida
    • Orange, Florida, United States, 92613
      • Withdrawn
      • Children's Hospital of Orange County (CHOC Children's)
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov
  • New York
    • New York, New York, United States, 10029-0574
      • Withdrawn
      • Tisch Cancer Institute, Mount Sinai Medical Center
  • North Carolina
    • Charlotte, North Carolina, United States, 28203
      • Withdrawn
      • Carolinas Medical Center/Levine Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 weeks and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Subjects with a diagnosis of any tumor or malignancy regardless of age, or without malignancy undergoing surgery, other treatment or normal well visit. Suspicion of a familial premalignant condition. Biological relatives of a subject with a pediatric or adult tumor or malignancy or with suspected familial cancer syndrome.

Description

• SUBJECT INCLUSION CRITERIA:

Pediatric or adult subjects with one of the following:

• Diagnosis of any tumor, malignancy, pre-malignant disorder, or suspected premalignant familial syndromes, regardless, of patient age;
• Biological relatives of any patient with a tumor, malignancy, pre-malignant disorder, or suspected familial pre-malignant syndrome, regardless of patient age or the diagnosis of an adult malignancy or pre-malignant disorder;
• Healthy Volunteer without history of malignancy nor a family member currently being treated for cancer who are undergoing surgery, treatment or during well visits;
• Biospecimens can be collected with minimal additional risk to the subject during sampling or procedures required for routine patient care.
• Human samples, specimens and data collected on IRB approved protocols that are now closed
• Ability of subject, Legally Authorized Representative (LAR), or parent/legal guardian of children <=18 to understand and be willing to sign an IRB-approved informed consent document that permits the use of the tumor and other samples for genomic-based molecular characterization projects.

Inclusion Criteria for Social and Behavioral Outcome Interviews:

• Parent/caregiver of a participating pediatric or adult patient who is being treated for, or who has previously been treated for any form of pediatric cancer.
• Must be able to give consent and sign the informed consent document.
• Able to understand the English language.

EXCLUSION CRITERIA:

None

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
1/Cohort 1; Adult or Pediatric subjects, with any malignancy, pre-malignancy, suspected malignancy, family history of malignancy, or without malignancy undergoing surgery or well visit.
2/Cohort 2; Human samples, specimens and data collected on IRB approved protocols that are now closed
3/Cohort 3; Parent/caregiver of a participating pediatric or adult subject who is being treated for, or who has previously been treated for any form of pediatric cancer.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
tissue analysis	Perform systematic molecular, genomic, proteomic, metabolomics and other high throughput ( Omics ) profiling on tumor and normal tissues	ongoing

Collaborators and Investigators

• Sponsor: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Rosandra N Kaplan, M.D., National Cancer Institute (NCI)

Publications and helpful links

General Publications

• Linet MS, Ries LA, Smith MA, Tarone RE, Devesa SS. Cancer surveillance series: recent trends in childhood cancer incidence and mortality in the United States. J Natl Cancer Inst. 1999 Jun 16;91(12):1051-8. doi: 10.1093/jnci/91.12.1051.
• Khan J, Bittner ML, Chen Y, Meltzer PS, Trent JM. DNA microarray technology: the anticipated impact on the study of human disease. Biochim Biophys Acta. 1999 Mar 25;1423(2):M17-28. doi: 10.1016/s0304-419x(99)00004-9.
• Khan J, Saal LH, Bittner ML, Chen Y, Trent JM, Meltzer PS. Expression profiling in cancer using cDNA microarrays. Electrophoresis. 1999 Feb;20(2):223-9. doi: 10.1002/(SICI)1522-2683(19990201)20:23.0.CO;2-A.

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): April 21, 2010

Study Registration Dates

• First Submitted: April 22, 2010
• First Submitted That Met QC Criteria: April 22, 2010
• First Posted (Estimated): April 23, 2010

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 20, 2026
• Last Verified: September 25, 2025

More Information

Terms related to this study

• Keywords: Natural History; Pediatric Cancer; Genomics; Proteomics; Solid Tumor; Sarcoma; Kidney Cancer; Tissue Repository; Neuroblastoma; Cell Lines; Omics
• Additional Relevant MeSH Terms: Urogenital Diseases; Urogenital Neoplasms; Neoplasms by Site; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms by Histologic Type; Eye Diseases; Neoplasms, Glandular and Epithelial; Eye Diseases, Hereditary; Urologic Neoplasms; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Neoplasms, Connective and Soft Tissue; Neuroectodermal Tumors, Primitive, Peripheral; Neuroectodermal Tumors, Primitive; Eye Neoplasms; Retinal Diseases; Retinal Neoplasms; Neoplasms; Neuroblastoma; Sarcoma; Kidney Neoplasms; Retinoblastoma
• Other Study ID Numbers: 100086; 10-C-0086

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All IPD recorded in the medical record will be shared with intramural investigators upon request. In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
• IPD Sharing Time Frame: Clinical data available during the study and indefinitely. Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
• IPD Sharing Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. Genomic data are made available via dbGaP through requests to the data custodians.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No