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

This is an interventional screening trial for Li-Fraumeni Syndrome focused on measuring Li-Fraumeni Syndrome (LFS), Cancer Predisposition Syndromes, LFS Read More

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