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That sounds like tough news to take, especially over Christmas. Hope you’re all OK. On the plus side, surgical removal of a tumour is always a good option if it’s possible.
Have they tested Archie for TP53 now?
I’m a bit confused – choroid plexus tumours are known for being associated with Li Fraumeni Syndrome, so why are they saying that his tumours aren’t necessarily lined to LFS? In any case, three primaries looks like pretty strong evidence of LFS to me.
Anyway, glad to hear that he’s bounced back from surgery like that.
That’s excellent news, Karen. Thanks for letting the group know.
Hi and welcome.
Lots of people here have had the test – some turn out to have the defective gene but others don’t. Your mum sounds like an amazing lady. Still, you would have thought that she’d have been diagnosed with LFS sooner given how many cancers she’s had.
That all sounds really positive – and as Professor Evans said, vigilance is the key here. Hope you’re feeling a bit less stressed after that. keep us posted – especially about the SIGNIFY trial.
Glad it went well. Hope you can recover enough to enjoy London for a bit.
All the best,
That’s good news. Let us know how it goes!
Good luck, Karen, sounds like a bit of a hectic schedule. Hope it all goes well.
Interesting to see that they’re keen to have people enrolled on the SIGNIFY trial. This should give hope to everyone else who wants to join.
oh Elly I’m so sorry to hear that, but it’s good that he’s well. Have they mentioned anything about screening for you both? Are you being seen at the Marsden or somewhere else?
Hi Elly. Definitely not alone. Sounds like your family have really been through it. Happy your sister doesn’t have LFS – have other members of your family been tested?
Thanks, Sandra. I see the story was also picked up in the Daily Mail today. I can’t remember the last time LFS was mentioned in the national press.
Sandra, here’s another way to think about your son’s treatment for his rhabdo – because he didn’t have radiotherapy it means there’s another trick up your sleeve if it ever recurs…
My son, George, also had a rhabdomyosarcoma of the temporalis muscle. He was treated with chemo and after surgery we were told there were clear margins. But it recurred in just a few months. It’s an aggrressive disease and recurrence becomes less likely the further on you go. In our case when it did recur George was treated with second-line chemo, radiotherapy and more surgery. More than ten years later his new tumours were all in the area where he’d been treated with rdiotherapy (we didn’t find out that he had LFS until after the third primary cancer).
Remember also that proton therapy is still a form of radiation, so although it’s much better than standard radiotherapy, it’s still not as good as no radiation therapy at all. So rather than thinking of his treatment as unfinished, I would view it as finished but you’ve still got room for manoeuvre if necessary in the future (heaven forbid!).
Anyway, I like the idea of trying to list those chemo drugs that work better for LFS patients. I’m also really glad that you’ve found the site useful, sometimes it’s hard getting a handle on how useful a service we’re providing to people.
There were two things I was thinking of.
The first is that if some new treatment comes along – say some new form of gene therapy that can replace mutated TP53 with normal type – then how can doctors quickly set up a clinical trial with a reasonable population of patients? With rare conditions like LFS they could wait for years until they get enough people on board. But if there was a central registry then there’d be a ready list of people to contact to join the trial.
Secondly, the emphasis on clinical research in LFS at the moment is on screening and surveiilance. That’s a start, but it’s not enough. In other genetic cancer pre-disposition syndromes, like Lynch Syndrome, they’ve moved to do trials of drugs to prevent sufferers from getting cancer in the first place. That’s what we need to be doing for LFS as a matter of some urgency. And for that I think we’ll need to push as a group to get things moving.
I’ve had confirmation that the SIGNIFY trial is close to being started. More details are available here: