Li-Fraumeni Syndrome

What is Li-Fraumeni Syndrome?

The Li-Fraumeni Syndrome (LFS) is an inherited malignancy tendency syndrome. The risk of malignancy or cancerous development can be get passed from generation to generation in a family and therefore it is also termed as a familial cancer syndrome. This condition arises due to, alteration of the genetic sequence.  The risk of cancer is prominent to the children or adolescent and most of the cases the cancer symptoms are detected before 30 years of age.

The associated cancers along with Li-Fraumeni Syndrome are breast cancer, osteosarcoma (bone cancer), soft tissue sarcomas (muscle cancer). Apart from these, brain tumors, leukemias (blood cancer),   adrenocortical carcinoma (cancer in the superficial layer of the adrenal glands).  A number of other types of cancer, such as  Wilms’ tumor (a type of kidney cancer), stomach cancer, colon cancer, pancreas cancer,  esophagus cancer, lung cancer, and gonadal germ cells (sex organs) also arise more often in individuals with Li-Fraumeni syndrome. (1,2)

Li-Fraumeni Syndrome CANCERS


LFS is an inherited genetic condition, therefore at risk of cancer is transferred from one generation to the next generation in an affected family. This situation is most usually caused by a genetic mutation and involved gene is a gene called TP53. In genetic mutation alters the correct functioning of the responsible gene. It has been observed that about 70% of the Li-Fraumeni syndrome case history involved the alteration of the TP53 gene.

Li fraumeni syndrome genetics

Another suspected gene involvement includes CHEK2 gene, though the risk of cancer with differing the gene may or may not affect. Multiple-gene panel testing finds that many carriers of CHEK2 mutations, though their risk of cancer incidence is less in comparison with active families with LFS, but they can carry the gene and may produce LFS to the next generation. (2,4)

How children get affected with Li-Fraumeni syndrome?

Li-Fraumeni syndrome is an hereditary syndrome and passed from one of the parents, who also affected with the same syndrome. But it is also observed in some cases that without involvement of the affected parents also cause a novel TP53 mutation, it is expected that the TP53 alteration come up during fertilization stage means,  either in an egg or sperm cell that shaped the fetus or during pregnancy one of the child’s cell get altered TP53 gene. This type of cases initiates the first onset Li-Fraumeni syndrome within a family and carry forward to generation to generation.

In any ways, if anybody has Li-Fraumeni syndrome have a 50% chance to pass the TP53 mutation to their children. (4)

Li fraumeni syndrome mode of transmission


For better screening process of Li-Fraumeni Syndrome LFS Association is formed in 2010 with the support of the United States’ National Institute of Health (NIH).

Genetic testing

The suspecting of Li-Fraumeni syndrome is come up with an individual’s medical or family history. During genetic counseling, doctors used to inquire about an individual’s physical condition and the physical condition of other family members. During the inquiry, the doctor makes a family tree on the basis of the types of cancers and ages at which these cancers occurred within a family. Then genetic counselors assessing this family tree for finding out the following answers:

  • The rate of cancer incidence within the family members
  • The age of the onset of the cancer
  • The incidence of cancers are matching with an expected cancer incidence with Li-Fraumeni syndrome.

Depending upon this analysis, child or other family members will expect to recommend genetic testing of TP53 in suspected cases of  Li-Fraumeni syndrome.

Screening techniques

Screening tests for cancer is very important for Li-Fraumeni Syndrome and early detection are beneficial for patients. Close and continuous monitoring for possible cancer is one of the prime step in the screening process. The aim of the screening is to early detection, therefore, available treatment can effective and patient survival and quality of life should be improved. It is always recommended that a screening test result should discuss with the doctor, who is an expert in Li-Fraumeni syndrome. The included screening tests are as follows:

  • Yearly detail physical examination with an intensive assessment of skin condition and neurological function.
  • Routine hematological test, including a complete blood count (CBC).
  • Screening test for endocrine cancer, specifically for adrenal gland functioning
  • Brain and body MRI should conduct yearly
  • Intermittently ultrasound test of whole abdomen is included

Li-Fraumeni syndrome may need additional tests for adult patients, which include:

  • When affected individual is in the early 20s, then a colonoscopy test may include in every 2 to 5 years.
  • Females in their early 20s should perform mammography (breast examination) 6 monthly and yearly breast MRI need to save the patient from advancing the breast cancer. (2,3,4)


The available treatment is not able to avert or postponement the incidence cancer in Li-Fraumeni Syndrome and even The accessibility of whole-body MRI (magnetic resonance imaging) is narrow to detect the efficacy of applied treatment regimen.

The treatment for cancer is applied only after detection  of the particular cancer. Depending upon the age of the patient, a treatment plan is made, and may also reduce the chance of subsequent malignancies. It has been observed in studies that followed protocols involves radiation-free clinical surveillance may allow families to detect the early identification of cancers and hopefully propose to improve survival rate. (5)


  1. Li-Fraumeni syndrome (2016); Genetic Home references; Retrieve from:
  2. Li-Fraumeni Syndrome (2015); Cancer.Net Editorial Board; Retrieve from:
  3. LFS Association; Retrieve from:
  4. Li-Fraumeni Syndrome; St. Jude Children’s Research Hospital; Retrieve from:
  5. David Malkin, Judy E. Garber, Louise C. Strong, Stephen H. Friend; The cancer predisposition revolution How was the inherited basis of cancer foreshadowed? Downloaded from: 6 on May 26, 2016; Retrieve from:

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