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This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
Individuals who carry the TP53 mutation have a higher risk of developing different types of cancer over their lifetimes. This gene has been associated with Li Fraumeni syndrome in some families, but not all families that have cancer histories consistent with Li Fraumeni syndrome will have the mutation. Currently, there is no standard method of monitoring LFS carriers, family members, or others individuals with cancer predisposition syndromes to detect cancers in the early stages, when they may be more easily treated.
The main aim of the study is to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI), in patients with these syndromes, to see if cancers can be detected at an early stage which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body MRI scanning because this scan allows doctors to look at the entire body in one examination. By using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Whole Body MRI | Experimental |
|
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Whole Body MRI | Device |
|
| Measure | Description | Time Frame |
|---|---|---|
| Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans. | Successful return of patients for four annual scans will be recorded. | 4 years |
| Measure | Description | Time Frame |
|---|---|---|
| Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans. | Successful return of patients for four annual scans will be recorded. | 4 years |
| Detection of prevalent and incident cancers on WB-MRI in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes. |
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Inclusion Criteria:
Adults
Individuals greater than or equal to 18 years of age.
Individuals with "Li Fraumeni Syndrome" defined as one of the following:
A child of a parent with known p53 mutation that is diagnosed with cancer
An individual with a sibling and a child who are p53 positive -OR-
Individuals with an inherited cancer predisposition syndrome as defined by one of the following:
NOTE: Individuals with any of the above-listed cancer predisposition syndromes (apart from Li Fraumeni syndrome) are likewise eligible in the absence of a known mutation if they are an obligate carrier by pedigree.
Individuals can have a prior history of cancer; these individuals must be in stable remission and at least 6 months out from the completion of surgery/radiation\ therapy/chemotherapy.
Individual cases can be reviewed with the institutional principal investigator.
Individuals not pregnant at enrollment. Female subjects of childbearing potential will undergo a pregnancy test prior to imaging.
Individuals able to give informed consent or a signature from a designated health care proxy or legal guardian.
Children
Individuals who are less than 18 years of age
Individuals with "Li Fraumeni Syndrome" defined as one of the following:
A child of a parent with known p53 mutation that is diagnosed with cancer
An individual with a sibling and a child who are p53 positive -OR-
Individuals with an inherited cancer predisposition syndrome as defined by one of the following:
NOTE: Individuals with any of the above-listed cancer predisposition syndromes (apart from Li Fraumeni syndrome) are likewise eligible in the absence of a known mutation if they are an obligate carrier by pedigree.
Individuals can have a prior history of cancer; these individuals must be in stable remission and at least 6 months out from the completion of surgery/radiation therapy/chemotherapy. Individual cases can be reviewed with the institutional principal investigator.
Individuals not pregnant at enrollment. Female subjects of childbearing potential will undergo a pregnancy test prior to imaging.
Signed document of informed consent completed by the parent or legal guardian
Signed document of assent obtained if child ≥10 years of age
Exclusion Criteria:
Adults and Children
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| Name | Affiliation | Role |
|---|---|---|
| Allison O'Neill, MD | Dana-Farber Cancer Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dana Farber Cancer Institute | Boston | Massachusetts | 02115 | United States | ||
| Memorial Sloan-Kettering Cancer Center |
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Tabulation of all follow-up imaging studies, biopsies, and cancer diagnoses will be pursued. |
| 3 years |
| Detection of prevalent and incident cancers on additional screening studies in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes. | Tabulation of all follow-up imaging studies, biopsies, and cancer diagnoses will be pursued. | 3 years |
| New York |
| New York |
| 10065 |
| United States |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| ID | Term |
|---|---|
| D016864 | Li-Fraumeni Syndrome |
| ID | Term |
|---|---|
| D009386 | Neoplastic Syndromes, Hereditary |
| D009369 | Neoplasms |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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