Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to rare cancers. LFS was first recognized by Drs. Frederick Li and Joseph Fraumeni Jr., while studying pediatric and familial cancers at the National Cancer Institute. Their study looked at multiple early-onset cancers in children and young adults.
Years later, the term “Li-Fraumeni syndrome” was used by researchers who described two families with multiple forms of childhood cancer. Children and young adults are likely to develop multiple cancers, including soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia.
What Causes Li-Fraumeni Syndrome?
The syndrome is caused by a mutation in a tumor suppressor gene known as TP53. The p53 protein produced by the gene becomes damaged and unable to help prevent malignant tumors from developing.
Not everyone with a TP53 gene mutation will necessarily develop cancer, but the cancer risk is a lot higher than people in general. Genetic testing for LFS is very important for affected families. This enables them to get genetic counseling and be alert to potential cancers.
What Are the Symptoms of Li-Fraumeni Syndrome?
If you have had or your family history shows certain rare cancers that are associated with LFS, then there is a possibility you have LFS. Doctors will be on the lookout for multiple childhood cancers or specific rare cancers such as adrenocortical, choroid plexus carcinoma, or hypodiploid acute lymphoblastic leukemia. These symptoms may highlight the possibility of hereditary cancer syndrome such as LFS.
What Cancers Are Associated With Li-Fraumeni Syndrome?
The cancers most closely associated with LFS include:
- Adrenocortical carcinoma
- Acute leukemia
- Brain tumor and CNS tumors (glioma, choroid plexus carcinoma, SHH subtype medulloblastoma, neuroblastoma)
- Breast cancer and multiple breast tumors
- Soft tissue sarcoma
These other cancers are also possible with a lower risk than the core cancers:
- Adrenal gland cancer
- Gastrointestinal cancers (such as colon, pancreas)
- Gonadal germ cells (such as ovarian, testicular, and prostate)
- Lung cancer (adenocarcinoma)
- Melanoma or skin cancer
What Is the Prognosis for Li-Fraumeni Syndrome?
Those with LFS have a 50% chance of developing cancer by the age of 40. The likelihood rises to 90% by the time they reach 60. Females have an almost 100% chance of developing cancer in their lifetime because of the possibility of developing breast cancer.
Patients with LFS may develop two or more primary cancers throughout their lifetime. If your doctor suspects that you have LFS, then genetic testing of TP53 is recommended to diagnose the condition.
When LFS causes adrenal gland cancer, the team at Urology of Greater Atlanta can offer a variety of treatments, depending on the severity of your condition and your overall health needs.
Your treatment plan could include medication, radiation, or chemotherapy. In some cases, surgery may be necessary to remove the tumor or your adrenal glands.
Call Urology of Greater Atlanta or request an appointment online if you have any concerns about adrenal cancer.