Li-Fraumeni syndrome (LFS) is a very rare syndrome only affecting about one in every twenty million people.Â It is an inherited gene disorder that only one parent has to have to pass along to their child.Â This syndrome causes the person who has the mutation in the gene to have a higher risk of developing cancer starting in childhood.Â Of course the severity of the syndrome depends per person, as well as the types of cancers can be widely different even within the same family with the mutation.Â Â
There are some cancers that are pinpointed as rare enough that they are indicators to potentially being caused by this rare gene mutation.Â Some of the cancers someone with LFS can have are breast cancer, osteosarcoma a bone cancer, soft tissue sarcomas, brain tumors, leukemias, adrenocortical carcinomas, lung adenocarcinomas, melanoma, gastrointestinal tumors, kidney cancer, thyroid cancer, or gonadal germ cancer.Â With LFS you can develop one of these, but sometimes you will develop multiple types of cancers at once.Â
- If you have LFS you have a 50% chance of getting cancer by the age of 40 years old.Â
- A 90% chance of developing cancer by the age of 60 years old.Â
- If you are a female with LFS you have about a 100% chance of getting cancer because of the likelihood of breast cancer.Â Â
Signs & Symptoms
The first sign that most people get with Li-Faumeni syndrome is a family history.Â If you have other members in your family who all have had cancers that are related to this syndrome that could be your first clue.Â Next if you have childhood cancers is another red flag.Â Then finally the rare types of cancers that are just affiliated with Li-Fraumeni syndrome.Â Genetic testing can test to see if you have the mutation in the gene TP53.Â
There is a diagnosing criteria.Â If you match all of these indicators it helps your doctor know what type of mutation they are dealing with.Â Â
- If you have a sarcoma diagnosed before age 45.Â
- Parent, sibling, or child of yours has had cancer before the age of 45.
- Grandparent, aunt, uncle, niece, nephew, grandchild, with any cancer before the age of 45 or sarcoma at any age.Â
Early detection increases the overall survival rate of people with Li-Fraumeni syndrome.Â
Treatment depends on what type of cancer you have if you have developed cancer.Â Most of these cancers respond to treatment that would be done to someone who didnâ€™t have Li-Fraumeni syndrome.Â
Your doctor will want you to do continuous screenings and check ups throughout your life when you have LFS.Â This helps them stay on top of any cancers or sarcomas that show up as soon as they can detect them.Â
Precautions & Screenings
It may also mean you want to take some extra precautions since your body is already so quick to develop cancers.Â Stay away from all tobacco products to help stop lung cancers, and other cancers that can be caused by tobacco products.Â As well as make sure you take care of your skin while in the sun, using sunscreen and other sun protection.Â Â
If you know you have LFS when you are a child you will have specific screenings your doctor will want you to do.Â From birth to age 18 here are some appointments your doctor would want you to make sure you stayed on top of.Â General assessment and physical exam every 3 to 4 months.Â Ultrasounds of the abdomen and pelvis every 3 to 4 months.Â Blood tests every 3 to 4 months.Â Annual brain MRI and whole body MRI.Â Your doctor will also want to be notified immediately of any other sickness or symptoms that come up between these times.Â Staying vigilant is key.Â
Adults will want all of the above as well.Â With the addition to breast cancer awareness, and clinical breast exams annually.Â Annual dermatologist visits should be done as well.Â Upper and lower endoscopies should also be done yearly.Â Â
Genetics & LFS
Your doctor can help you find support groups, or a therapist to speak with when finding out if you have LFS.Â Sometimes the genetic testing and finding out your results can be more traumatic than people realize.Â People who have been diagnosed with LFS may consider not to have children due to the fact that there is a 50% chance they can pass it along to their children.Â Only one parent has to have the mutated gene to pass it on to a child.Â Â
Early detection is key to overall survival in people with LFS. There is no standard cure for Li-Fraumeni syndrome.Â Though some people who have the syndrome and who develop cancer end up beating the cancer.Â The problem is their chance of getting cancer still stays very high.Â So redeveloping cancer can happen even after they have had cancer and beat it.Â
Life expectancy depends on when each person with LFS develops cancer, and how severe it is.Â Sometimes people can live a whole life while others may not be able to make it many years at all.Â
Follow ups with your doctor as well as keeping up with your treatment plan is important when battling LFS.
Li-Fraumeni syndrome (LFS) increases risk for cancer. A genetic mutation in gene TP53. #HealthStatus
This syndrome causes the person who has the mutation in the gene to have a higher risk of developing cancer starting in childhood.
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