[PanP]

Hi Donna. Let us know if you have questions – sometimes it does take a while for things to sink in

• This reply was modified 3 years, 6 months ago by PanP.

[PanP]

Hi Andrey. Lots of interesting questions there.

In terms of finding out about the range of TP53 mutations – both germline (as in LFS) or somatic (as in spontaneous cancers in people without LFS), have you looked at the IARC TP53 database? Take a look at the online database here: http://p53.iarc.fr/ It is also possible for someone to have a mutated TP53 gene and other mutated genes – for example TP53 and one of the BRCA genes – in which case the risk of cancer is even higher.

People with LFS are normally born heterozygous – which means that have one ‘normal’ copy of the TP53 gene (usually called ‘wild-type’ in medical papers), and one mutated copy. It’s thought that ‘loss of heterozygosity’ (i.e. losing the normal version of the gene) is a major step in the process of cancer formation in people with LFS.

[PanP]

Hi Elly. What a grim story. No matter how many times we see stories like that from people with LFS its’s still a shock to see it written down. All I can say is welcome aboard – you’re among people who know what it’s like to live with this horrible condition.

[PanP]

We’ve now put together an online survey to gather all your ideas and suggestions for our meeting. Please take the time to fill it in – the more input we have the better…

The survey is here [url=https://www.surveymonkey.com/s/GJ8GNPY]https://www.surveymonkey.com/s/GJ8GNPY[/url]

[PanP]

OK – it’s probably easier if I email these to you…

[PanP]

Thanks for the update Helen. One other option might be low dose metronomic chemotherapy – Paul Waldron, who had LFS and leiomyosarcoma was on this along side the anti-diabetic drug metformin for a while. I think he may even have posted on it in this forum at some point. For the record low dose cyclophosphamide does not work like a conventional chemotherapy drug – you get none of the nausea, hair-loss and so on. Instead it works to get the tumour blood supply under control so that the tumours can’t get the nutrients they need to expand. If you want to know more let me know and I can email some papers you can share with your oncology team.

Pan

[PanP]

Hi Karen,

We’re still working on an agenda. The next step is to put a survey online to get a better idea of numbers and a better idea on what content people are interested in. I’ll post a link as soon as it goes live.

Pan

[PanP]

That sounds like a really good suggestion. I think a topic on reducing cancer risk is an absolute must!

Pan

[PanP]

Hi Helen.

I am so sorry to hear about Archie. Losing a child is so unbearable – and to be faced with your own illness on top…

In terms of next steps I hope that they do have something. I would ask if it is possible to attack the bits of leiomyosarcoma using radiofrequency ablation or similar technique. In terms of clinical trials it will all depend on what previous treatments you’ve had. I would also ask whether there are metronomic chemotherapy options available. Please feel free to email me directly (pan.pantziarka@tp53.org.uk) if you have questions before or after seeing someone at the Marsden.

Good luck and keep us posted.

Pan

[PanP]

Hello Rena. I am so sorry to hear of your loss – I wish you and your daughters the very best. I know how difficult it is to lose loved ones – but please know that you will always have friends here.

Pan

[PanP]

I have just completed a draft of a new paper that takes a much wider look at cancer initiation in LFS and how we might decrease the level of risk. It incorporates some new data and is more wide-ranging than my previous paper. Following publication I will be discussing with a number of colleagues how we can take that information and move it further. Clinical trials are difficult in cancer prevention because of the number of people you have to enroll to be able to show any effect with reasonable confidence. This is a tough problem with LFS, but again I have been working on this and have a proposal that I think might be able to move us forward.

In terms of other research, there’s a few things being done at the NIH in the US, and we’re in contact with the investigators but it’s fairly low key exploratory work. Absolutely essential work for sure, but nothing to report yet.

[PanP]

Karen I am so sorry to hear this news. I was in regular contact with Paul until very late. I shall miss our email discussions. He was an inspiring person who never missed an opportunity to help others.

Pan

[PanP]

Normally you’d see a genetics counsellor who will discuss with you the options on testing and the pros and cons of what to tell your children. Personally, I have yet to meet a parent who is positive for LFS not wanting to get their children tested immediately.

[PanP]

Hi Hannah. Sorry to hear about your family history with LFS.

You should be tested as a matter of course now that your sister has it, as will any other siblings, and any children that your sister has. In terms of getting your children tested, if you don’t have the TP53 mutation then there’ll be no need to have your children tested. So everything hinges on your test result. Are you in the UK?

Pan

[PanP]

Surinder, I hope the palliative care team are more amenable to the suggestions I made in my email…

Pan

[Author]

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