Tumor Profiling - I have to share with you

[mamacze]

Hello Gang,
I am sorry I have not posted in a long while; but for a GOOD reason! I am still pretty stable after 8 years post metastatic dx.
I am writing to share news about what I think is extraordinary pathology testing. I had a small tumor pop up in my lungs when I went on a short Herceptin holiday. My oncologist had it biopsied a couple of weeks ago and sent the tissue samples to Precipio Diagnostics at Yale in New Haven CT.
The report was amazing. They did a complete tumor profile; identified the exact gene mutation I am experiencing in that tumor (PIK3CA G1049S); then identified a promising med that will target that particular type of mutation. They also listed relevant available clinical trials with a link on clinical trials.gov. This is MUCH more info than from a standard lab and of course gives me the HOPE that comes from recommended trials and treatments.

Their web site (if you want to check it out) http://www.precipiodx.com/physicians_tumor_profiling.html

Also, when I called them to ask how I can get a bx sample to them; they sent me the FedEx package to mail the Biopsy results in. They consulted with my doc; all in all a great experience!!

I am happy to send a copy of my report if you are interested in seeing how it looks if you PM me.
Love Kim (from CT)

[lkc Gumby]

wow, that's wonderful news. I think we are finally beginning to see a turn toward targeting txs.

[conomyself]

Thank you Kim. I keep a file of options for the future if I need them. This is definitely going in there!

I'm sure that lung met will leave as quickly as it came!!

Love,

Rachael

[KDR]

Kim,
This is cutting edge. Thanks for sharing your information on the new frontier of fighting this disease. Keep going!
Love, your friend,
Karen

[Ellie F]

Hi Kim
I had already sent my pm before I read this post. It is so good to hear that they have been able to so effectively track down the culprit gene and better still that there are good options to zap it. Please keep us informed on what treatment path you go down.
Ellie

[mamacze]

Ellie,
Yes, it is specific treatment options and HOPE that carries the day for me!
For my tumor's genetic mutation the lab noted a promising drug called Everolimus which is now approved for use with renal carcinoma. They thought it would be the most effective and has already shown promising results. It is comforting to know exactly which drug has the best shot at working when this pesty lung met starts to act up again. In the meantime; Herceptin continues to work well.
The hope that this gives me, made it worth the effort of shouting from the tree tops!
XOXO

[Becky]

Love ya Kim!!!

[mamacze]

Becky! Such an Angel! So GOOD to see your beautiful picture, hear a chirp and see by your signature that you seem to be A-OK!
Wish we were next door neighbors!!

[chrisy]

Kim, very interesting, and as you say, HOPE filled post.

Thanks

[StephN]

As usual, Kim, you go right to the top, without wasting time on the way!

Evirolimus is also called Afinitor, and has been used by some of the members here in the early trials last year. You could search by Afinitor as well and see what the other gals had to say about it.

This was one of the "darlings" of the San Antonio Breast Cancer Symposium last year. It got approval last July by the FDA to use with a homorne suppressor (I think), and some trials are ongoing for other stages/uses.

Good drug to have in your "bank account."

[mamacze]

Hey StephN! As always you have words of wisdom - thank you for chirping! I didn't know its trade name is Afinitor - and Afinitor I am familiar with. I am comforted to know it is already approved for use for some other cancers; so when it is my time to change therapies my doctor won't be WASTING time on tykerb, T-dm1 trials, etc; he knows that my tumor will respond to this everolimus or Afinitor. The strides they are making today are incredible - gives me so much hope for my daughters -
xoxo

[mamacze]

And StephN - SO HAPPY to see you are STILL NED - EVEN if it is on a wing and a prayer!!!

[Pray]

Kim, Outstanding! What awesome hope for all of us some day! Thank you so much for the update. How absolutely wonderful for you. Gods blessings to you and your family. Peace my friend,

Nancy

[evergreen]

Dear mamacze,
Thank you for emailing me the info!

[sarah]

Kim,
This is exciting news and I'm sending all the love and positive energy to you in this new treatment. You are a pioneer, this is very exciting. Hopefully this means we finally "getting there"
hugs and love
health and happiness
sarah

[mamacze]

Evergreen - you are welcome, I hope the info is helpful!

And Sarah - oh my gosh, I have to log in more often. It is so nice to hear from you! Yes, it is exciting news; I feel like we are turning the corner with new diagnostic tools and genetic profiling.
How are you doing? I think of you often and just kick myself for not logging in more often.
xxoxo

[Kim in CA]

Hi Kim!

Wow that certainly is amazing to get that much info on your tumor. You are a pioneer for sure!

Since I'm not up to speed on lung tumors, can you share how the biopsy was taken? Was this an out patient procedure?

Like you, my Herceptin holiday didn't last as long as I'd hoped, so this is timely info for me as well.

Hugs to you Sister!
Kim

[sarah]

Hi Kim,
It was nice to see a post from you. I'm doing well, thank you.
Last winter I had serious breathing problems and they discovered I'd had a heart attack - it was news to me!! I just had pain in my chest when I went out in the cold to walk my dog in the morning!!! Anyway an artery had closed up due to the radiation I had for BC, so I had an angioplasty and a stent put in. so now I'm on pills for that!!! I also have fibrosis in one lung also because of the radiation. But all of that is just easy stuff. I watched the angioplasty - it was fascinating. I had to stifle a laugh when the doc said "merde" (shit) in the middle of the op! Not something you like to hear when something's being pushed up a vein from your groin!!! it was because the scanner slammed into the bed and he needed it to move it to the other side to see so then they pulled it around. He was thrilled when the vein burst open - apparently when a vein is blocked 100% it's not a sure thing that they can open it!!! something he only divulged to me the night before the op!!! so I took 2 mild sleeping pills that night - one the nurse gave me and one my roommate had squirreled away!
I just got back from 3 weeks in China which was very interesting.
Keep us posted on what's going on with you. It all sounds very well planned. Hope this new treatment is easy to take, get well and come and visit me!
hugs and love sarah

[mamacze]

Oh Kim, I am sick at heart that you too had a set back after your Herceptin holiday. I think deep in the recesses of our minds, there is a tiny whisper of hope that maybe we are cured and don't need our Vitamin H after all; but sadly, that is not the case. Where did your cancer recur? Please don't tell me your brain...:>(

Yes the procedure was same day and in performed in radiology. The interventional radiologist simply numbed me up, slid the tiniest of wires into my lungs, scraped a few samples of the tumor then sent it to Precipio Diagnostics in the packaging that Precipio provided to me.
(You can check them out at http://www.precipiodx.com/contact.html) I asked my oncologist to have the biopsy sent there, instead of the in hospital lab. I was very interested to see exactly what my genetic mutation was and to know what treatments are effective with it, and am amazed at the report. I will get my oncologists opinion in 2 weeks (delayed because of hurricane). Kim, please keep me posted on what you decide to do and what treatments you go on. Our histories are so similar.

Sarah - you had a HEART ATTACK??!!!?! Good Grief!! Cancer isn't enough?!? Thank God alls well that ended well! And how wonderful you had what I hope was a restful and fun 3 weeks in China!

Wish we all were neighbors!
xoxo Love Kim (from CT)

[Jean]

Kim,
Very exciting! Please don't stay away too long again.

Best Wishes,
Jean

[sarah]

Hello Kims in Conn!
yes, Kim I wish we were all closer and could visit easily, what fun it would be!
Take care ladies and keep us posted on what's up with you. I know we're all pulling for some really good news.
About the heart thing, just remember ladies that women often don't know they're having a heart attack and that radiation can effect the organs badly. So I'd say if you've had some strong radiation, keep an aspirin in your pocket and if you ever have a slight chest pain, chew it and then check it out. A small part of my heart muscle is permanently damaged probably because I didn't realize what was happening, (I still can't believe I had one only the scintigraphy proof) - I also didn't then have an aspirin in my pocket and of course didn't call 911 (the Samu here). Anyway the treatment was a breeze.
Cancer is our real worry and sometimes it seems we're so close to a major breakthrough and the end of cancer but still it hangs on. Still this tumor marker stuff is so exciting and so hopeful.
If it makes you feel better, we are currently having a heavy rain storm here in the "sunny" south of France!!!
hugs and love
sarah

[europa]

So I can't remember where I saw someone post something about an issue with Precipio, but I sent the concern to the CEO and this was his response. I am actually in the process of having a sliver of my tumor sent to them for profiling. I figure, knowledge is power right?
· Yes, our TP test focuses on actionable mutations within a certain set of genes which conform to one of two options: Either (a) responsive mutations – meaning mutations in genes for which drug companies have developed therapies that are FDA approved or in clinical trials, or (b) non-responsive mutations – meaning mutations which have shown not to respond to therapies, or in fact response in a negative manner (which would lead to an action on avoiding putting the patient thru painful AND non-productive or even destructive response.
· Futhermore, our panel does use a comprehensive approach and tests for mutations that would typically not appear in certain types of cancers. The underlying philosophy that drives this approach is that the field (at least in the opinion of the Yale experts who designed these tests) is moving from a location-based cancer, to a gene-based cancer. They predict (and are in fact trying to drive the field towards this) that in the future, cancers will be classified by the gene that caused the cancer, rather than where it presented. So instead of breast cancer, patients will be diagnosed (and accordingly treated for) Her-2 cancers. Up until today, Her-2 is tested by standard for breast cancer, as you well know. But is it possible that a mutation is found in (for example) a pancreatic cancer? Literature will say no, absolutely not. But the simple reason for that is that nobody has looked for it. It’s a strange chicken-and-egg situation which we are breaking by looking for non-typical genes that are well-known in certain cancers, and looking for them in other cancers as well. That is where we look for (and often find) those unexpected results your friend was referring to.

So I agree with your friend on the fact that it is reasonable and indeed necessary to test for those genes that would be considered “typical” in one cancer – why not look for them in others. That is indeed what we do. What our TP (tumor profiling) does not do is we do not test for genes for which there are no treatments (I will caveat that because we have a test coming down the line that will – that’s for our next discussion). There are two main reasons why we test for actionable treatments only in our current TP format:

1. Focus. The reality is that most physicians like a focused and concise report that gives them information they can use to treat the patient. They do not like to receive information that doesn’t help them. Right or wrong (and I don’t think there is any one indisputable answer), I can understand that perspective.
2. Cost. This is the second factor. Of course as a cancer patient I can totally understand that money may be the last thing you care about when you are fighting for your life. My family has battled cancer and I’ve been there and know well the feeling that even if you don’t have the money, one is willing to sell the shirt on our backs to try something that may work. However, there is another side to that coin. As members in a healthcare system where costs are out of control and may very well be the one “sector” that causes an economic disaster in this country, we need to be responsible corporate citizens. This is a complicated and fine-line issue that is tough to balance, between practicality, and creating skyrocketing costs. And there is no absolute right answer. It is problematic to ignore the one factor that you as a cancer patient don’t really care about – efficiency. But this is a factor that exists whether we like it or not. In a perfect world we would do full-body CT scans and MRIs for every human twice a year. Depending on what research you read, that would most likely reduce the occurrence of cancer by an order of magnitude. But it would cost each individual about tens of thousands of dollars more in health care costs per year. Now calculate that for a family of 4, who will pay for this? You see my point and I’m sure its not a new point to you. So like it or not, cost does factor into how a diagnostics company behaves.

At Precipio, and at Yale, this is an ongoing debate and we struggle with these decisions every day. There is no right or wrong. What we have chosen currently to provide our physicians and their patients, is a comprehensive test which looks at all actionable genes and mutations, even if those are outside the standard cancer types they typically appear in. We feel that is a good balance between the “exploratory” side of genetic mutation testing, and the efficiency side.

Now to the competition, I will try to point out the differences with a couple of the competitors, I will refrain from mentioning names because that can get us into legal trouble, but you’re smart enough to put 2 + 2 together:
1. Competitor A
· Some companies use a combination of technologies (rather than one single technology) that are either unproven scientifically, or outdated. There is a problem with results consistency when multiple technologies are combined, and especially when they are not substantiated by clinical evidence. Every single mutation conducted at Yale has been clinically validated – if you would like I can send you a 160-page document that includes all that data – excellent bedtime reading, guaranteed to put you to sleep in moments…J. We used sequencing which is the cutting edge technology that undoubtedly will be the driver of this field. Micro-array is questioned in many forums as a valid technology, and IHC is simply old-school technology, outdated and lower accuracy than sequencing.
· Specimen size needed – this may or may not be relevant to specific patient situation, but overall this is becoming a major issue as biopsies are becoming smaller and smaller (which is great for the patient – less invasive procedures). The problem is by the time the standard tests are done, there is often very little tissue left for our types of tests. If you look at some of the competitor’s requisitions, they asks for 50+ slides, which is a huge amount of tissue. This again is because different technologies are used and so they require multiple slides for each machine they use. Our test requires 5 slides and we’ve been known to do it with only 1-2 slides.

2. Competitor B
· There are new players that are very interesting, and are really ahead of the game, and I commend them for that. I have no doubt that perhaps in 3-5 years, the tests they are doing may become standard. By then there will be more evidence and more applicability to those genes tested (in terms of targeted treatment outcome); also costs will hopefully come down, making it more affordable. But for now I have heard numerous physicians remark the following about these kinds of tests:
i. As mentioned before, the report goes beyond actionable genes, and so physicians I’ve spoken with get frustrated with getting a long report that they have a hard time figuring out how to actually treat the patient (which is what they are ultimately looking for, and is a good thing, right?). they view sometimes less as being more, I guess is one way of putting it.
ii. Cost. These tests are billed at over $5,000 and some insurers are refusing to pay for it. From the insurance company’s perspective they are saying something like: “If out of the 150+ genes tested, only ~10 have information that can help the physician treat the patient, why are we paying for the other 140?” I’m not saying there isn’t a good answer to that question, but that’s their position as a profit-driven insurance company. Physicians also (rightfully so) see themselves as corporate citizens of the healthcare system, and so they see a problem with ordering such tests for that reason as well.

From a cost perspective our test runs between $800-$2,400, and has been approved by medicare and private payers. Yale has never had a claim rejected, and I think that goes to show we’ve found a good balance between good science, efficiency and cost.

Sorry for the long winded answer, hope this helps you and your friends. Happy to discuss this further, whether by email or phone.

[KDR]

Kim
Hey, angel! Have missed you.
I just had my profiling done at Foundation One. Interesting results. Afinitor looks like a very promising drug in my case, too.
I have had a chemo holiday after that major surgery, on Herceptin and Arimidex alone for four months, but we are seeing a mixed bag with bloods, one up, two down. So, PET on Wednesday (remember IR couldn't finish job because of the bleed). If I do need to push a met or two back down, most likely I'll stay with what I'm on but add Afinitor.
We haven't spoken in a while, so how is it treating you?
Love
Karen

[norkdo]

Kim! This is Gold! Bless you for sharing! Never thought this would happen inside our lifetimes!!!

[Andrea Barnett Budin]

I'M THRILLED TO READ ALL THIS!

TUMOR PROFILING. Exactly.

Some thread I posted, with GDPawel's help, is in here -- CANCER SUCCESS blah blah... can't remember...

But this is what I am talking about! Cutting edge. Makes such perfect sense. And it's happening -- in our lifetimes.

Hurray! Yes GOLD, Nora!

So important to SHARE...

[KDR]

Europa,
You are right. Tumor specimens are an issue. It took twice as long to do mine because a reorder of tissue was necessary.
I had mine done with Foundation One. I got a 39-page report. Seventeen mutations were discovered, most of which are actionable. The report ended with a map of who is treating my specific pathology, what the treatment location is and whether a drug is approved for it or not
Please keep up the good work.
So far to go,
Karen

[Lien]

That is the way we want cancer research and treatment to go. Targeted tx for specific tumors.

A little caveat on Everolimus/Afinitor: most people do great on it, but a friend of mine had a serious SE. Because it was so rare, her docs didn't realize it was the Afinitor and she was in the ER several times needing transfusions. She stopped taking Afinitor and bounced back within weeks, so it is reversible. The SE's were so rare that none of her doctors had heard of it. Just the fact that a friend of hers is a very knowledgeable bc advocate saved her from more grief. My friend developed a persistent cough and weakness. When she got worse, she needed the transfusions.
But again, it is very, very, very rare. It is a very promising new drug and I hope that if you need it, you won't develop these SE's and go back to the arms of NED, dancing with him forever.

Jacqueline

[mamacze]

How nice to hear from you Angel! I thought about you just 2 weeks ago - we were in NYC visiting my son (at NYU…a freshman!) and daughter (Waverly Street) - we stopped by the 9/01/01 memorial and I said a prayer for you.
I am so glad you had your tumor profiled. So interesting that Afinitor is a promising drug for you too - I wonder if you had the same mutation as me (a pi3K?). My oncologist says the mutation is a result of cancer being an inherently unstable cell structure and that it is not the type of mutation that we could pass onto our kids.
Good luck with your PET on Wednesday - Lord knows you are due for a good long break.
Have a wonderful Thanksgiving holiday (are you celebrating Hanukkah too?) I am expecting a wonderful surprise of 20 out of town family members (and of course a to-do list to choke a horse) - please stay well my friend - I will be meditating for you on Wednesday….XO

[mamacze]

Nora - it is my fervent hope that it is gold for you too. XOXO

[mamacze]

Jacqueline - thank you so much for the heads up - for those of us with the “small risk” of getting Her2 type - how can we not want to stay on top of the “small risk of side effects” -so double thank you’s are in order for this caution. I am glad to see in your signature that you are doing fine but also thank you for logging in and keeping the rest of us on our toes!! (Are those your children in your avatar? They are absolutely precious)
XO