Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes

Recruitment & Eligibility

Status: Active, not recruiting

Sex: All

Target Recruitment: Not specified

Inclusion Criteria

Inclusion Criteria: - Adults - Individuals greater than or equal to 18 years of age. - Individuals with Li Fraumeni Syndrome defined as one of the following: - Carriers of a germline p53 mutation - Members of families meeting classic LFS criteria by family history without an identifiable p53 mutation - Obligate carrier by pedigree (these individuals can be offered testing but are still eligible if they defer). The following examples describe obligate carriers by pedigree. - 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: - Hereditary Retinoblastoma with a germline Rb mutation - Diagnosis of Hereditary Paraganglioma/Pheochromocytoma Syndrome with a germline SDH mutation - Diagnosis of Multiple Endocrine Neoplasia, Type 1 or 2, with a germline MEN mutation - New diagnosis of opsoclonus-myoclonus with a negative cancer work-up upon presentation of symptoms - Familial Neuroblastoma with a germline ALK mutation - Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) or Congenital central hypoventilation syndrome (CCHS) with or without a germline PHOX 2B mutation - Von Hippel-Lindau with a VHL mutation - Women with an abnormal cell-free DNA test (i.e. a non-invasive prenatal test (NIPT) to detect chromosomal abnormalities) and no cancer diagnosis - Other rare cancer predisposition syndromes at the discretion of the treating physician and study physicians - 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: - Carriers of a germline p53 mutation OR - Members of families meeting classic LFS criteria by family history without an identifiable p53 mutation OR - Obligate carrier by pedigree (these individuals can be offered testing but are still eligible if they defer). The following examples describe obligate carriers by pedigree. - 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: - Hereditary Retinoblastoma with a germline Rb mutation - Diagnosis of Hereditary Paraganglioma/Pheochromocytoma Syndrome with a germline SDH mutation - Diagnosis of Multiple Endocrine Neoplasia, Type 1 or 2, with a germline MEN mutation - New diagnosis of opsoclonus-myoclonus with a negative cancer work-up upon presentation of symptoms - Familial Neuroblastoma with a germline ALK mutation - Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) or Congenital central hypoventilation syndrome (CCHS) with or without a germline PHOX 2B mutation - Von Hippel-Lindau with a VHL mutation - Other rare cancer predisposition syndrome at the discretion of the treating physician and study physicians - 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 - Active cancer or metastatic disease, except in the case of Stage 0 Chronic Lymphocytic Leukemia or nonmelanoma skin cancer. - Patients with a contraindication to sedation or general anesthesia - Patients with a metal heart valve, surgical clips, a pacemaker or any other indwelling metal device that might interfere with MRI - Females who are pregnant or nursing

Exclusion Criteria

Not provided

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans.

Secondary Outcome Measures

Name	Time	Method
Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans.;Detection of prevalent and incident cancers on WB-MRI in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.;Detection of prevalent and incident cancers on additional screening studies in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.

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