Li Fraumeni Syndrome

Cheesequake

I've just learned I have Li-Fraumeni Syndrome, a rare genetic condition that increases the risk of developing several types of cancer. For women with LFS, the lifetime risk of cancer is nearly 100%.

On the bright side, it's nice to know that my cancer isn't because of anything I did or didn't do, and there really wasn't anything I could've done to stop it. The problem now is how to avoid new cancers and recurrence.

I had an LX and SNB almost three weeks ago. My MO wants me to do chemo, radiation, possible ALND or possibly radiation to the lymph nodes. (I had lymphovascular invasion around the sentinel lymph node, though the node itself was clear - this is apparently very weird, and the MO wants to treat it as lymph node involvement.)

Those of us with LFS are highly sensitive to radiation and have a much greater risk of developing new cancers at the radiation site, so it's recommended to avoid radiation whenever possible.

My MO says we need to treat the cancer I already have before we can worry about the cancer that may be.

I really don't know what the hell to do.

gracie22

Hi, I have enjoyed your posts and your positive energy. I read the info provided in your link on Li Fraumeni Syndrome and looked at the Wiki entry. Posters from outside of the US have discussed chemosensitivity testing; it is offered in Germany and some other European countries to determine how effective specific chemos would be on your particular cancer. Given your situation, would it make sense to avoid radiation completely and rely solely on a chemo that will work against your cancer? The testing is not routinely offered in the US, (and my own oncologist dismissed it saying that the tumor sample provided is not necessarily representative of all cells--I don't agree; there has to be a reason they are relying on it in other countries, and a way to do reliable sampling) but your situation is so unique, it is worth an ask. As many on these boards have said, get as educated as you can before agreeing to a treatment. Radiation always has its risks, and your case presents a special challenge. 

Cheesequake

Ive never even heard of chemosensitivity testing, I'll check it out! Thank you for that!

gracie22

Hope it helps.  Have your doctors consulted with others who have treated people with the syndrome? It is so rare that a consult with a doc that has actually dealt with it and has the latest info would help. You have probably scoured the web already, but the Li Fraumeni Association has links to hospitals and medical centers.

Cheesequake

Today I've spoken to three different doctors that are researching LFS (from the LFS association website, thank you gracie!). I have to say I'm overwhelmed at how willing they were to talk, email, provide input and give me suggestions, all for free - that was huge.

All of them confirm that evidence does not show that LFS will make me chemoresistant to TCH (my recommended chemo), but the radiation is still a conundrum. I'm now leaning towards chemo and no rads, but still haven't decided. So difficult!

There is a closed LFS facebook group that is supposed to be very helpful but I can't seem to get anyone to approve my membership.

I don't wanna be a "special mutant." It should come with cool superpowers like flying or something.

gracie22

About the chemosensitivity testing, I wasn't thinking that the LF itself would have any impact on what drug to use; the test is supposed to show how reactive your particular cancer is to a given chemo, regardless of how or why the cancer started.  From what I have read, combo chemo is used because any individual chemo drug has about a 20% chance of working on any given person, so using a mix increases the chances of at least one of them having an effect. In your case, with the radiation issues and higher risk of other cancers, it would seem to make sense to figure out what drugs do actually work to give you the maximum benefit (and maybe avoid some SEs.) I assume chemosensitivity testing isn't part of standard care in the US because it is fairly new, adds expense and some docs don't trust the sampling as noted earlier. One of the other regulars may have some more definitive info; most of the articles I have seen on the web are from Germany or the UK. It seems ridiculous to expose people to numerous chemos and all their related SE without knowing what, if any effect they have on the actual cancer. Here is part of a post from another BCO member named Bestbird --see the whole post at https://community.breastcancer.org/forum/8/topic/827292?page=1#post_4260029 or search using chemosensitivity testing for more info on this site:

"Molecular profiling has the media abuzz with hope, but thus far it's probably fair to say the results have been mixed.

Another alternative is, if your tumor is biopsy-able or if you have malignant ascites or pleural effusion, you might wish to consider sending a sample off for chemosensitivity testing.  The tumor or malignant liquid would be tested against different chemos and combos to see what it may be susceptible to, and what it may be resistant to.  This is still considered controversial and many doctors do not believe in it, and it may not be covered by insurance. However, several people have indicated that it has helped them and that it was superior to the hit-or-miss approach to chemo that is used today.  If you are interested, two viable places are Rational Therapeutics  http://www.rationaltherapeutics.com/  and Weisenthal.  http://weisenthalcancer.com/Home.html  Dr. Nagourney of Rational Therapeutics studied under Dr. Weisenthal, and Dr. Weisenthal has been doing this since the 1990s.

Weisenthal Center  http://weisenthalcancer.com/Home.html  1.714.596.2100 Rational Therapeutics  http://www.rational-t.com/  1.800.542.4357 . . . "

 

 

 

elabee

Hi Cheesequake,

I was diagnosed with Stage 2b (1-2 lymph nodes involved). I did 6 rounds of TCHP (taxotere, carboplatin, herceptin and perjeta) along with 1 year of herceptin. I was given the LFS diagnosis 1 month after starting chemo.

My oncology team essentially gave me a 50-50 chance of having radiation. It would depend on whether I had a complete response to chemo. As for the type of radiation, they suggested proton therapy without the boost at the end. After my surgery, it was found I had a complete response to chemo. Since I had a complete response (and considering the high risk of a different cancer due to radiation), they decided against radiation.

You can have your doctor confer with doctors familiar with LFS. Here's a quick list of doctors familiar with LFS: Dr. Strong at MD Anderson, the Li-Fraumeni team at the NIH, Dr. Ellisen at MGH or Dr. Julia Smith at NYU.

LFS can be a scary diagnosis. You can reach out to the moderators for the private group on Facebook again since there is A LOT of information on doctors and hospitals worldwide that are knowledgeable about Li-Fraumeni. Unfortunately, there has been an influx of people recently diagnosed with LFS wanting to join (and the moderatoras are balancing managing the group along with their private lives), it can take a little while to be approved.

For those of us with LFS, it's great when we have a doctor that knows about Li-Fraumeni but more often than not, we have to educate our healthcare providers.

Good luck and although it can feel like a lonely diagnosis, you're not alone.

elabee

Also the folks who run the facebook group, they have just created a nonprofit group and website - http://livinglfs.blogspot.com/

JSilb

I was diagnosed with Li Fraumeni last August. They stopped my radiation immediately because it should not be done for LFS patients unless it is the absolute only treatment available to them. I had bilateral breast cancer and lymph node involvement. I will also be taking Tamoxifen forever because that is what the research for LFS breast cancer patients is pointing to. Sending you hugs. It's a rare genetic club no one wants to belong to.

Cheesequake

JSilb, do you have a link for the Tamox/LFS research? Thank you!

JSilb

I don't have a link. I contacted Dana Faber Cancer Institute after my genetic tests came back because I live in an area where they have never seen another li-fraumeni patient. Dana Faber has done a lot with li-fraumeni research, and they told me their current recommendations. I have been on Tamoxifen since 8/14, and while there are some side effects, if it will play even a small role in keeping the breast cancer at bay, it is worth it to me. As for all of the other cancers that this syndrome puts us at great risk for, I will just have to deal with those if and when they come. The li-fraumeni makes me even more grateful for my healthy days, since genetics suggests that I will be fighting cancer again at some point. It is an overwhelming diagnosis on top of the breast cancer; I am thinking about you.