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



Status:Recruiting
Healthy:No
Age Range:Any
Updated:8/22/2018
Start Date:March 2012
End Date:September 2021
Contact:Allison O'Neill, MD
Phone:617-632-4202

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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.

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
We found this trial at
2
sites
450 Brookline Ave
Boston, Massachusetts 2215
617-632-3000
Principal Investigator: Allison O'Neill, MD
Phone: 617-632-4202
Dana-Farber Cancer Institute Since it’s founding in 1947, Dana-Farber has been committed to providing adults...
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1275 York Ave
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Memorial Sloan Kettering Cancer Center Memorial Sloan Kettering Cancer Center — the world's oldest and...
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