Sarcoma in Li-Fraumeni Syndrome 2018


In 1969, Dr. Joseph Fraumeni and Dr. Frederick Li were working at the National Institutes of Health when they noticed four families with two children who had sarcomas. Three families had two siblings, one family had two cousins with sarcomas. Beyond that rare occurrence, 3 of the mothers of the children had breast cancer. Further study found 24 kindreds with lots of cancer, which they labelled SBLA(Sarcoma, Breast, Leukemia, Adrenal) Syndrome, now known as Li-Fraumeni Syndrome.





Sarcomas are considered rare- which is to say they make up less than 1% of all cancers in the general population. Sarcomas make up about 25% of all LFS tumors- but everything, including rarity is relative in a rare cancer syndrome. Unlike most other tumor types- sarcoma is not limited to one region of the body. This is partially what makes sarcomas so difficult to recognize, diagnose, screen, and treat.  They can be hard, soft, painful, pain-free, slow growing or really aggressive. You can find sarcomas in bones, muscles, fat, or connective tissue(blood vessels, nerves, cartilage). They can appear at any age.


There are over 50 types of sarcoma. Many sarcomas are identified by where they are found or the cell type- Rhabdomyosarcoma(striated muscle), Liposarcoma(fatty tissue- often mistaken for cysts), Leiomyosarcoma(smooth muscle), Osteosarcoma(bone), OR  chondrosarcoma(cartilage). You may have had or known someone with a sarcoma if you recognize the terms: Malignant Fibrohistiocytoma(sometimes referred to as pleomorphic sarcoma), Myxoma,  or Gastrointestinal Stromal Tumor- also sarcomas. This makes sarcomas difficult to diagnose. Consulting with sarcoma specialists and getting second opinions for diagnosis and treatment are encouraged.


The average age of sarcoma diagnosis in LFS is 16 years old. Certain sarcomas are seen more frequently at certain age ranges, although they can and do appear anywhere at any age. For example, Rhabdomyosarcomas are diagnosed more often at age 5 and under, Osteosarcomas are more often seen at ages 20 and under and liposarcomas and leiomyosarcomas are both more frequently seen after age 20.


LFS mutants have radiation sensitivity. This means that radiation can cause damage to our genes that mutant p53 cannot fix. To avoid genotoxic damage, we try to avoid radiation where possible. This can be problematic for screening, diagnosis and treatment. Scans such as X-ray and CT use different amounts of radiation, but can see certain tissues better than MRI or ultrasound, which don’t use radiation. Radiation therapy, which is a standard of care for many cancers, is problematic with LFS. Sarcomas in general are tough to treat, so we try to avoid radiation if we can, but we have to treat the cancer we have with whatever arsenal is at our disposal. As we say in our support group- You have to fight the shark closest to the boat. 


Recently there is more support scientifically for using Whole Body MRI(WB-MRI) to screen for tumors in LFS. Although this method can be cumbersome and expensive- there are not many alternatives to sufficiently cover the whole body risk of sarcoma without radiation exposure. There is the risk of false positives, stress and more tests. There is also the chance tumors will be caught early enough to get out before they metastasize. Another one of our favorite sayings in the support group is When in doubt, cut it out.  We are a lumpy, bumpy bunch. We grow weird. Not everything is cancer. Sometimes it’s easier to cut out the little lumps than worry about what they might become. We use the 2-week rule as an unofficial time frame to know when something should be looked at. The other recommendation from those with experience is to get second opinions, on pathology, on treatment, on everything sarcoma, from sarcoma specialists. Second opinions can help you make the best decision for you.


Where to get more information on Sarcomas:
Sarcoma Alliance

Sarcoma Foundation of America

Rein in Sarcoma

International Sarcoma Kindred Study


World Rare Disease Day 2016: Li-Fraumeni Syndrome

World Rare Disease Day is February 29, 2016. Living LFS is teaming up with Global Genes to raise awareness about Li-Fraumeni Syndrome and Rare Diseases.

LLFS 2016 Rare Aware is a patient advocacy organization for rare diseases. Their mission is to eliminate the challenges of rare disease by building awareness, educate the global community and provide critical connections and resources that equip advocates like Living LFS to become advocates for their disease.  Their mission is so similar to ours for the Li-Fraumeni Syndrome community. Living LFS joined the Global Genes RARE Foundation Alliance in 2015 because although we have a small patient population, according to the Global Genes website, “collectively the rare disease community is larger than the AIDS and Cancer communities combined.”  Even though the actual diseases are unique, many of the issues we face with rare conditions are similar and by sharing experiences and resources we can help each other navigate for a better quality of life.

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80% of Rare Diseases are Caused by Faulty Genes.

LFS is one of those Diseases, caused by mutations in the TP53 Tumor Suppressor Gene. People with LFS are at risk for many different cancers over their lifetime and many times multiple cancers. Although LFS mutants have higher risk of cancer, advances in early detection and new screening methods help us live longer, healthier lives.

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Approximately 50% of People Affected by Rare Diseases are CHILDREN.

Approximately 50% of LFS cancers happen before the age of 30. Half of the LFS core cancers are RARE childhood cancers such as choroid plexus tumors or adrenocortical carcinomas.  Soft tissue Sarcomas and Osteosarcomas are seen often in kids with TP53 mutations. Because of such a strong link between sarcomas and TP53 mutations, Dana Farber Cancer Institute began recommending all children who present with sarcomas be referred for genetic counseling.

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In the US, a disease is Considered RARE if it affects fewer than 200,000 people. 

Some literature says 400-500 families worldwide are affected with LFS. Others say that many families exist in the US alone. We don’t know how many are actually affected with LFS because not all people with LFS get cancer. We do know it is rare and that many physicians do not know a lot about it. This makes getting good care for our community extra difficult.


How Can You HELP?

-Help others be AWARE.

Share information about Li-Fraumeni Syndrome with friends, family, or care providers. This year we are wearing our Living LFS shirts and Jeans and making it a goal to talk to at least one person about Li-Fraumeni Syndrome.  Not sure what to say? Just talk from your heart and your experience living LFS.  You can refer them here to our website at or download our informational pdf and print it out to share.



-Share You’re RARE.


You can share your story here in a blog post. It helps others to know they are not alone in living LFS. Feel free to post at our public Facebook page and let us know how you are living LFS.  Wear your living LFS shirt and take the opportunity to tell people who ask- What’s LFS?  that you are living with a hereditary cancer syndrome.

Contact US to SHARE your story.

-Show You CARE.

I <3 Someone Living LFS

Let your friends or family who are rare know how much you care. Send them a message or a text just to say hi. Update your profile picture to one of the great badges supplied by or create one of your own that tells someone who is facing a rare disease that you support them.

We are Rare. We Care.