start date: September 19, 2020
estimated completion: October 5, 2020
last updated: October 8, 2020
size / enrollment: 5000
study design: Time Perspective: Prospective
study description: Background:
Laboratory-based investigations have contributed to an improved understanding of the biology of cancer and to the development of new therapies for malignancies.
Omics investigation may identify novel drivers in the germline or tumor for high risk, relapsed, refractory or rare cancers.
Omics investigation may identify germline or somatic alterations that are medically actionable and or can enable precision therapy.
Objectives - Primary Objective:-Identify incidental and secondary findings in germline DNA and actionable somatic mutations for reporting clinical results from a CLIA-certified lab into CRIS medical records.Eligibility - Adult or Pediatric patients of any age with one of the following:Diagnosis of any tumor, malignancy, pre-malignant disorder, or suspected cancer susceptibility familial syndromes, regardless of patient age; OR
Individuals without history of malignancy who are undergoing surgery; OR
Individuals without a history of cancer but evidence of an inherited cancer syndrome based on family history and/or other manifestations of a pre-cancerous syndrome (e.g. polyposis, plexiform neurofibromas, myelodysplastic disease); OR
Patient enrolled in an approved companion protocol.
Tissue (including tumor, normal, blood, bone marrow, serum, plasma, or other tissues) that has been previously collected under CLIA and maintained in a CLIA lab which is available for CLIA analysis.
Tissue (including tumor, normal, blood, bone marrow, serum, plasma, or other tissues) that has been previously collected and is available for research analysis.
Biospecimens can be collected with minimal additional risk to the subject during sampling or procedures required for routine patient care.
Individual may be undergoing treatment for malignancy, premalignant condition or receiving other care associated with an inherited cancer syndrome.
Patients may be referred to the Principal Investigator from outside institutions.
Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent OR
IRB waiver of the requirement for informed consent for specific types of tissue.
Design:This study will allow for the collection of specimens for CLIA reporting of germline and somatic mutations. The study will also collect specimens for a Tissue Repository, and for other investigations as outlined below.
CLIA testing activities will includeDNA extracted from a section of tumor, malignant tissue, blood, or bone marrow samples for somatic mutation sequence analysis
Germline DNA extracted from lymphocytes, saliva, skin, or any normal uninvolved tissues for sequence analysis to identify somatic alterations in the cancer and for the reporting of incidental findings of established clinical validity and utility.
Research activities may include:DNA, RNA and protein Omics analyses from extracted normal and/or tumor tissues; the remainder of the tumor tissue will be stored.
Germline DNA and RNA analyses from extracted lymphocytes or other normal uninvolved tissue.
T (TCR) or B Cell Receptor sequencing from blood, tumor, or malignant tissue.
Establishing Patient-Derived Models such as patient-derived xenografts (PDXs), early-passage in vitro tumor cultures, and organoid cultures, conditionally reprogrammed cells (CRC) lines, explant and cell lines from tumor or normal samples by the NCI Patient-Derived Models Repository (PDMR) at Frederick National Laboratory for Cancer Research or by the OncoGenomics laboratory.
Cryopreservation of viable normal (e.g. PBMC) or malignant tissues.
Establishment of EBV transformed cell lines from blood for medical research either by Coriell Institute or by investigators on this protocol.
Omics (Genomics, Proteomic, Epigenetics, Metabolomics) studies will be performed.
Expected accrual 50-500 patients per year. Total protocol accrual goal 5,000 patients.
primary outcomes:
- Identify incidental and secondary findings in germline DNA and actionable somatic mutations for reporting clinical results from a CLIA-certified lab into CRIS medical records. [ Time Frame: ongoing ]
Sample analysis.
secondary outcomes:
- Molecular, genomic, epigenetic, transcriptomic, proteomic, metabolomics and other "omics" profiling on tumors, malignancies and normal tissues [ Time Frame: ongoing ]
Sample analysis for identification of biomarkers, drivers and medically actionable targets for clinical management.
- Create a tissue repository [ Time Frame: ongoing ]
Repository for analysis of samples.
- Extraction and storage of circulating tumor DNA [ Time Frame: ongoing ]
Storage of samples.
- Establishing Patient-derived models [ Time Frame: ongoing ]
Analysis of samples.
- Cryopreservation of viable tumor tissue for future study [ Time Frame: ongoing ]
Sample storage for future analysis.
- Establishment of EBV transformed cell lines for research [ Time Frame: ongoing ]
Analysis of germline samples.
- Creation of an OncoGenomics oversight committee [ Time Frame: ongoing ]
Oversight and development of new treatment approaches.
- Assessment of effects of the informed consent process [ Time Frame: ongoing ]
Survey data collection and analysis.
inclusion criteria:
• Eligible Ages: 0 - 99
• Eligible Sexes: all
Adult or Pediatric patients with one of the following:
• Diagnosis of any tumor, malignancy, pre-malignant disorder, or suspected cancer susceptibility familial syndromes, regardless of patient age; OR
• Individuals without history of malignancy who are undergoing surgery; OR
• Individuals without a history of cancer but evidence of an inherited cancer syndrome based on family history and/or other manifestations of the syndrome (i.e. polyposis, plexiform neurofibromas, myelodysplastic syndrome); OR
• Tissue (including tumor, normal, blood, serum, plasma, or other tissues) that has been previously collected under CLIA and maintained in a CLIA lab which is available for CLIA analysis.
• Tissue (including tumor, normal, blood, bone marrow, serum, plasma, or other tissues) that has been previously collected and is available for research analysis.
• Biospecimens can be collected with minimal additional risk to the subject during sampling or procedures required for routine patient care.
• Individual may be undergoing treatment for malignancy, premalignant condition or receiving other care associated with an inherited cancer syndrome.
• Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent; OR
• IRB waiver of the requirement for informed consent for specific types of tissue.
exclusion criteria:
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