DEEP DIVE ON TUMORS - GENETIC MUTATIONS ETC - ANYONE ELSE? NF1, TP53 and CDK4?
A bit of good news for me today - There are three mutations in my ovarian cancer tumors that might be targeted for future treatments. The treatments are not standard of care so to get these drugs, I'd have to ask for compassionate grounds or be part of a trial. But I have a mutation in the NF1 gene - MTOR inhibitors may block the mutation - and a mutation in the CDK 4 gene - CDK 4 amplification inhibitors may block the mutation and the P53 gene may or may not have targeted treatments available. None of this would be activated until the Avastin/Taxol treatment combo I'm on stops working - I expect these targeted drugs cost many thousands . They may be available in the US now at a huge expense. For now, I am to stay with Avastin and Taxol. Knowing that these mutations exist is hugely helpful in my own research and I am going to look for supplements and off-label drugs that have shown promise in blocking these pathways. I've been reading a lot about things that might work on these tumor pathways so this is hugely helpful in my studies. I will take this as a win because some of my friends got a 'nothing found' result and I wasn't expecting much. If any of you have any of these mutations in your disease, please let me know how the information has been used in your treatment and what has transpired. Thanks.
Comments
Thanks for sharing the information. It sounds like you are happy to know the mutations and understanding them. Make sure you talk with your Medical Team about supplements and off-label drugs and how they may or may not interact with anything you are on currently.
I am still waiting on my genetic material to come back from a 2nd lab with more intense testing but am fully prepared for an "inconclusive" or "genetic material not known".
As for trials and expense, if they are available in Canada and your team thinks you are a candidate, they will reach out to their peers for assistance as well. The cost of them is sometimes covered under the "Compassionate Care Program" which I, personally, have been awaiting approval for since the beginning of August with no concrete answers yet. Or if they do have them, they have not shared them with me which is frustrating. But here I wait.
The P53 is it identified solely or as a "wild" mutation? Just curious. I believe I might have seen that in my initial biopsy when they did my colonoscopy to discover what was occurring with me. The CDK-4 I have seen some info on but can't really say much more than that as I did not explore it any further myself. The NF-1 gene is interesting, I am going to look it up just to see what it says about it.
Very promising for you nonetheless and am glad you felt you could share it with the rest of us.
Keep us posted as you go along.
@BellaDonna1959 Can you answer the question above from JustHappyToBeHere. Thanks, Fearless