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#1 amy1989

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Posted 19 August 2012 - 12:49 PM

First of all, please excuse my complete lack of knowledge of this disease as I am just now starting to research and slightly understand what I have.

I am a 23 year old female. I was referred to a hematologist/oncologist back in January as my platelet levels were consistently higher than normal. I was currently pregnant with identical twin boys. The hematologist kind of shrugged it off, but did a few tests anyhow. Sure enough, the DNA test came back with positive results for the ABL-PCR gene mutation-meaning CML. Of course, I was petrified. I have a 3 year old daughter and now 3 month old twins. The doctor was absolutely SHOCKED that he got the results as the levels were so extremely low. He was actually in denial himself and decided he wanted to do a retest after I had my twins. We had the test done again, and oddly enough, my platelet levels are back in the normal range, but I do still have a positive ABL-PCR gene mutation number (and I am slightly anemic). If I recall correctly, it went from a <0.004 in Jan., to a <0.002 just a few weeks ago. My Oncologist isn't really sure if we should treat the CML right now because he says that I am so extremely early in the disease, he doesn't know what to do. We are doing a bone marrow biopsy in the next few weeks, and he is referring me to a specialist at Duke University. I am slightly confused about why my levels would go DOWN over the last 7 months, as is my doctor, but he seems to think that I do in fact have CML, just in an extremely early stage. He says we may not have even caught it for another 5+ years as I probably wouldn't have any kind of symptoms and even in a few years, it may only be due to routine bloodwork that we found it.

I think I have been in denial for a while as I have been so "calm" about the matter explaining it to a few friends and family but it is starting to set in and I am absolutely horrified at the moment. I have three kids and a husband who is active duty military. From my understanding, this is a rare form of Leukemia but "completely treatable and manageable" but I have to be honest, that isn't enough for me to be "calm" about the matter. The oncologist explained that there are side effects of Gleevac and he isn't sure if he wants to "put me through that" quite yet if its ok to wait, which is why he is referring me to the CML specialist at Duke. At first, I agreed, why give me side effects of the drug if it is not needed "yet?" I have since starting thinking about what if the disease progresses quickly and it goes from the Chronic phase to the Accelerated phase between blood tests? Why wait on treatment if its possible to stop the disease from progressing from the very beginning?

I guess I am just looking for support. My husband is in denial, I believe, and he doesn't really understand what is going on. He is there to support me in whatever I need, but since the doctor is so "positive" about the matter, my husband doesn't feel the need to worry. I haven't been "worried" yet either, until a few days ago when all of a sudden I have been terrified of this disease. What can any of you tell me about CML? My results are so low, from your experience, does starting on Gleevac sound like a good idea or should we wait to see when/if my numbers go up? Those of you on Gleevac, what are the side effects? I know of fatigue, swelling, water retention, and so forth. I have been told that Gleevac works in 90% of patience, and if it does not work, there are other drugs that most likely will. Will I be able to live a normal, active life on Gleevac? I am getting a bone marrow biopsy done soon, what should I expect with that? I am not really even sure what they are looking for from the biopsy, can anyone explain that?

I know, lots of questions, and I intend to talk to the specialist, but that could be another month or two from now and I am terrified sitting here typing this. Advice, support, encouragement, whatever you can give me us helpful!!!

Thanks!!



#2 TeddyB

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Posted 19 August 2012 - 01:09 PM

Welcome Amy, you have come to the right place for help.

First off i am sorry about your doctor thinking you have CML.

If i were you i would go to see an expert as soon as possible.

When you say ABL-PCR, you mean BCR-ABL i take it? This is the gene caused by the Philadelphia Chromosome that most CML patients have. I was diagnosed 4 months ago, 36 years old with 2 small kids, and i have been on 400mg Gleevec since then, the side effects vary from person to person, some lucky ones dont have any noticeable side effects at all, while others have it pretty bad. I myself have been abit nauseated, had dry skin, some fatigue, and always seem to be getting an infection somewhere, but it is very manageable, and it seems to be getting better by the day. Luckily there are now 3 drugs to chose from, and 2 more on the way, so if one drug has to much of a side effect for you, there are always a few options. A lot of people say the side effects are worst the first months of treatment, and for me this seems to hold true.

Just remember to take Gleevec with a meal, and a large or medium glass of water as Gleevec tends to be a bit hard on the stomach.

I too was very shocked and frightened in the beginning, but as you see the drugs start to work over time, it gets better.

If BCR-ABL and Philadelphia Chromosome is shown from your tests, then i would probably start Gleevec right away, but as i said earlier, get to a CML expert or someone with knowledge of CML pronto. You will probably get some good advice from some others than me on this forum as well, who have had this disease for many years.

Another thing, if it was caught very early, like it looks like this was, then chances of disease progression is low, so try to relax, but i would think the sooner you start treatment, the better.

While i was waiting for answers, id start reading here: http://treyscml.blogspot.com/

A lot of useful information for the newly diagnosed on that site, and i am pretty sure Trey will drop you a forum post as well, to help you along the way.

Best of luck to you, and come here to this forum and post a message if your feeling down.



#3 amy1989

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Posted 19 August 2012 - 01:18 PM

Ah, yes, BCR-ABL is what I am referring to. My doctor has mentioned the Philadelphia Chromosome thing. Seriously, I am so ignorant when it comes to this.

My husband seems to think that if this doctor doesn't think we should start meds right away, why worry about it? But everytime I think about not starting the meds, I look at my kids and can't help but get overly emotional. Why would I want to WAIT and possibly let the disease progress as my doctos is suggesting? We will get to the specialist ASAP, and my oncologist certainly recommends that we do so as he is not a specialist in CML, but knows someone at Duke that is. The only thing that I am concerned about starting the Gleevac so early is that I have read that taking Gleevac indefinitely, you can build a resistance to the drug, which is terribly scary, but as you have said, there are other medicinest that can be taken. Yes, we think we have "caught" it at a very, very early stage...in fact, my oncologist says he has never seen something like this before and is quite puzzled, which I have to be honest, is scary in itself, but from what he is saying, its a GOOD thing he has never seen something like this before because it means we have caught it so early.

Thank you for your response, Teddy. I am trying to "relax" as much as possible, but all it takes is a quick glance at my kids and I start panicking again. They need their mom!



#4 TeddyB

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Posted 19 August 2012 - 01:27 PM

Since i am so new at this myself, i cant say for sure about your special case, but im sure someone with more knowledge than me will give their input soon.

To share my story to maybe help ease yours, i was diagnosed with a wbc of over 270k, and the normal range is between 4.5k - 11k, i also had a large spleen that i felt like a lump when i laid over on one side.

First day at the hospital, they said i probably had leukemia, but they could not know until further tests were done. This was the day before Easter holidays, and i had to wait over one week before doing more tests. I remember the Doctors saying a week or 2 wont make any difference on the disease progression, and i was probably at a much later stage than you, so i know how you feel at this point cause i felt the exact same way, i really wanted to start some kind of treatment ASAP. That was one of the worst Easters for me EVER, but when i found out i had CML, i was kind of relived, cause i had read about all types of leukemia`s, and CML seemed like the most treatable kind.

As for the resistance of Gleevec, yes some people become resistant or intolerant to treatment, but most do well on Gleevec, and if not, you have the other TKI`s, (Tyrosine Kinase Inhibitors) Sprycel/Tasigna to try. Even if those fail, there are new trials now with Ponatinib and Bosutinib showing promise, and since you are so young a SCT would be possible, but this is only as a last resort.

One important thing to remember with Gleevec, is to take your pill each day, if you dont you will have a bigger chance of becoming resistant to Gleevec and not gaining an optimal response.

Anyways, you will meet a lot of nice people here on this forum, and they will help you in your journey.

And if i remember correctly, the last numbers regarding CML survival was 90% after 10 years, and the treatments get better for each passing day, so stay strong and do what your CML expert tells you, and you will get through this.

Btw, if you have your CBC(Complete blood count) you should post it here for the experts to interpret.

Also, if your BCR-ABL PCR (PCR is the test method) reading is .0002, then that is a very low count, and one that i myself hope to achieve myself after months/years of treatment. (My last reading was 3.0)

Teddy

Message was edited by: TeddyB



#5 swim1

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Posted 19 August 2012 - 01:58 PM

when doing the cladribine for 7 days, for HCL can you work? or are you home bound. Trying to figure out what to tell my employer. confused as to what to expect. Am in great health now, have low platlets and neutrophils. am very athletic.



#6 TeddyB

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Posted 19 August 2012 - 03:10 PM

Think you got the wrong forum swim1.



#7 Susan61

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Posted 19 August 2012 - 03:40 PM

Hi Amy:  You mention your Platelet Count.  Do you know what your White Count was WBC.  The first thing you need is the bone marrow biopsy to confirm what is going on.  There can be so many different blood disorders that you could also have.  With the other testing it does seem to be CML.  If the BMB confirms that you do have CML, then its not a watchful waiting situation.  You would have to go onto treatment, and if they have caught it very early that is a positive factor in your favor.

     Do one thing at a time and let them get to the bottom of your situation.  I am glad he is referring you to a specialist in the treatment of Leukemia also.  This way you will know that its being taken care of correctly.

     I have been on Gleevec for a very long time, and everyone is different in how they handle side effects. Don't worry yourself about that yet.  I have handled taking Gleevec very well.

     You have young children, and a husband in active duty in the service. Assure him that this type of Leukemia is the most treatable form to treat.  IT will take some of the anxiety off of him from worrying about you.  Let him know you  joined a group of people who have been living with this disease for a long time.  If it helps any, its almost 14 years for me with the use of the Gleevec.  Also, wait for your results to see what they are.  Please let us all know how your doing, and we are all here all the time to help in anyway.



#8 amy1989

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Posted 19 August 2012 - 04:37 PM

Hi Susan! Thanks for the response! Wow, 14 years of success is great! Of course, we are all looking for a lifetime of success, right? Congratulations on your progress so far.

My WBC and Platelet counts were both very minimally out of the normal range. I don't want to give false info and get false advice back so I don't want to say any numbers. I will get my numbers from my doc the next time I see him. I do know that my WBC and platelet levels were just SLIGHTLY elevated, and I was slightly anemic. I also had a very very minimal positive result (even lower the second time) after the PCR test or whatever. I am anxious to have the bone marrow biopsy done. I am certainly not looking forward to it, but I want the results. (A side note, what can I expect from the BMB itself? I elected to have it done in the hospital as I am quite the whimp when it comes to pain. Its more about the anxiety of the pain coming than it is the actual pain itself. My doc says they will lightly sedate me so that I am not knocked all the way out, but just unaware of what they are doing for the most part. Will it hurt afterward? Will I be limited at all after the procedure?) I do have to ask, and I have no idea if this is something that you (or someone else) could answer, but is CML worst case scenerio? I mean, if for some reason they did the bone marrow biopsy and it didn't show CML, it showed a different kind of blood disorder, is that a better scenerio than CML? That is another thing I am nervous about. What if the BMB comes back negative for CML (great!) but positive for something else? That is slightly scary, too.

I will be sure that I see the specialist ASAP. It will probably be in October that I make the trip down to Duke to see the specialist. The more I think about it, the more nervous I get about not starting treatment ASAP. I will take the side effects if that means that my disease does not progress. My doc keeps assuring me that we have caught it earlier than he has ever even heard of it being discovered, along with all of the other oncologists in his practice. I call my twins my life savers. Well, them and my overly cautious OB. My oncologist says that most doctors would have shrugged off the slightly elevated numbers and just had me back 6 months later, and even then, since my numbers have remained so low (back in the normal range, even), they could have still not done anything. He also says that he doesn't even know why he did the "more sensitive" test. He says had he done the less sensitive test, which they normally do, there would have not been a positive result. I know this is a blessing in disguise that we found it so early, but I can't help but be scared. Mostly emotional about the situation, but scared is one of the emotions.

Thanks for all the support that y'all have shown so far. I am so thankful I have found somewhere I can get specific support. My family and friends are absolutely amazing and support me, however I am trying to be the strong one and not make a big deal out of it so that they don't fear they are losing me, therefore I feel like I am giving them more support than I am getting. Thats my fault entirely, but I don't want to scare anyone for no reason.

Thanks, again!



#9 Susan61

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Posted 19 August 2012 - 05:01 PM

Hi Amy:  The What If's is what we make ourselves crazy with.  Don't put a lot of these into your head.  It does sound like its CML from what they have found so far, but you will not know till you get the BMB done.  Being done in the hospital is the best way as far as I am concerned. They can give you more sedation than they are allowed to give when done right in the doctors office.  I have had both, and they would give me Lidocaine which is what you get if done in a office setting.  That was not enough for me, but in the hospital they would give me Lidocaine, and IV Versed which makes you feel a little sleepy but your awake.  I also had some Demerol put into the IV with the Versed.  It depends on the doctor who is doing it.  You can ask for him to make it as easy as he can on you.  Only you know how much of a tolerance you have to pain.  I think your doctor has done the best for you so far trying to get to the bottom of your situation.

     When I was diagnosed my WBC was not very high like in some cases.  It was only 18, and normal is 10.  I had a very good primary doctor at the time, and she just told me to see the Oncologist to be checked out to be sure all was okay.  When she found out it came back CML, she was even shocked.  So this is a good thing for you to get all of this done.

    Its great when you have a supportive family.  I did also, but they did not understand the whole process of the disease.  When I got involved with the CML Group, I was able to talk to people who knew exactly what I was going through.

   Just try not to think ahead of yourself, until the results all come back in.  Enjoy your little ones, and just know that even if it is CML, that you will have many more years ahead to enjoy them and watch them grow.



#10 mariebow

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Posted 19 August 2012 - 05:27 PM

That was a good idea to have it in the hospital as susan61 said, this way is much better for a lot of reasons.



#11 Antilogical

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Posted 19 August 2012 - 07:53 PM

Amy - there was recently a great discussion here on the topic of BMB's.  Follow this link:  http://community.lls...e/149382#149382


Dx: Sudden severe anemia detected 07/2011, followed by WBC spike. CML Dx 02/2012.

Rx: 03/2012-Gleevec400.  Reduced 02/2013 to Gleevec300 due to side effects (low blood counts).

Response: PCR-Und within 7 mo. on G400. Maintained MMR4-MMR4.5 on G300. PCR-Und since 02/2016.


#12 Trey

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Posted 19 August 2012 - 08:59 PM

Amy,

You are in an unusual situation.  Normally CML would be diagnosed by the BMB or even a FISH test rather than going straight to a PCR test.  But as your doc said, neither a BMB or FISH would diagnose you right now.  Your PCR would need to be much higher, roughly closer to 1% in general terms to show up on the BMB or FISH tests.  But here you are, so now what?

Often the first sign of CML is very high platelets while all other blood counts are normal.  That was the case with me, and a year before diagnosis my platelets were nearly 1 million (several times higher than normal), but my white blood count was normal.  But no one saw my high platelets on that blood test since it was never read by the ER doc, so it was only seen after diagnosis a year later.  So this may be the situation you are in. 

There is a small chance that the PCRs are false positives.  The test is not as precise as we would all like.  But this is not the most likely scenario.  You probably have very early stage CML.

As for what to do about it, you are in very little danger of progression.  So you could do nothing, at least for several months.  You probably have at least 6 months before a BMB would be of any value, but since we are dealing with leukemia, it would be best to have the BMB anyway, but just realise you will be doing a BMB every 3 months if they are negative until the docs figure this out.  At the same time FISH and PCRs should also be done every 3 months.  As for starting drug therapy, that is a toss-up call.  But I would personally want to wait to be more positively diagnosed by BMB, FISH, or  rising PCR tests before starting drug therapy.  Otherwise the small chance that this is a false positive PCR would never be sorted out, since the drug would push the leukemia levels even lower and prevent diagnosis.  But in the meantime you would be on a life-long drug and never know that you could stop, or should not have started.

As some FYI stuff, pregnancy can mask CML for a time, since the body during pregnancy manufactures higher levels of natural Interferon, which is an anti-leukemic "drug".  So the pregnancy may have interfered with the presentation of the CML to some degree.  But overall that is just interesting, not very useful. 

Above all else, you should understand that CML has become very treatable over the past decade or so.  But much info on the Internet is out of date.  So you can be calm about this with good reason.

You could read some good summary info about CML starting here:

http://community.lls.org/message/14707



#13 Antilogical

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Posted 19 August 2012 - 09:16 PM

Like Amy, my first sign of CML was sudden anemia.  I went thru many tests over 6 months to rule out internal bleeding.  There is no place that I wasn't probed.  :-(  Just as suddenly, the anemia disappeared, but simultaneously, my white cell count spiked.  That was the clue the doctor was looking for.  The rest - as they say - is (my) CML history....


Dx: Sudden severe anemia detected 07/2011, followed by WBC spike. CML Dx 02/2012.

Rx: 03/2012-Gleevec400.  Reduced 02/2013 to Gleevec300 due to side effects (low blood counts).

Response: PCR-Und within 7 mo. on G400. Maintained MMR4-MMR4.5 on G300. PCR-Und since 02/2016.


#14 CallMeLucky

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Posted 20 August 2012 - 10:44 AM

Amy,

You have been given some good info so far, you are in a unique situation.  To reiterate what has been said, if you have CML it is very low level.  CML is a slow moving disease in the chronic phase so you shouldn't feel at this time like anything is imminent or a decision needs to be made.  That is probably harder for you than hearing a definitive "you should start treatment".  Starting treatment represents a strategy, "watch and wait" feels like free falling.  For our sanity we would rather know we have something like CML and have a good strategy, then float in limbo wondering what it is and what is going to happen.  I'm sorry you are in that state.  Being so young and having young kids makes it harder.  I'm a bit older (39) and I also have young kids, 6 & 8.  The stress of the unknown is what is going to be hardest on you right now and unfortunately there is not too much you can do about that.

You asked what the bone marrow biopsy would be like.  It is a procedure that lasts about 10 minutes or so once they get started.  In most cases they will have you lay on your front or sometimes on your side.  They should give you a local anesthetic that may pinch and burn a little from the injection.  They will then insert a needle into the hip bone and extract some fluid.  Since you are numb this should not hurt too much, however when they extract the fluid you will feel a decent amount of pressure that is a bit uncomfortable.  Think of a really bad Charlie horse.  For some people they find it rough, others of us don't enjoy it but don't think it is that bad.  If you are really nervous about it you can ask to be sedated, but I would say for the first one just do it with the local and see how it goes, you may not think it is that bad and avoid the sedation.  If you think it is really bad then future tests you can get sedated.  From what I understand having a baby ranks a lot higher on the pain scale than a BMB.  BMB's are typically done at diagnosis and then 6 mo post diagnosis to asses treatment.  Depending on how you are doing you may not need anymore after that.  In your case, until they figure out what you have, the biopsy schedule will have to be determined by the doctors treating you.

After they extract the fluid, they will go back in with another instrument to remove a small chip of bone to analyze under a microscope.  You will feel some pressure but this part is not too bad.  For many the soreness afterwards as you heal up is usually worse than the procedure itself.  All in all it is not the worst thing so try not to stress about that too much.

In your case it would be surprising if the BMB showed anything.  As Trey mentioned you appear to be so early on in this that you are at a level that most people hope to achieve on treatment.  At your level of BCR-ABL it would be very surprising if they find Philadelphia Chromosome in your BMB.

I would tend to agree with Trey in your case and hold off on treatment until you have a definitive diagnosis, preferably by two different doctors.  TKI treatment is not the worst thing in the world, but it is something you would not want to do unless you have to.  Since the protocol is to continue treatment indefinitely, you would be putting yourself into a long commitment for something that has not been clearly defined.

I don't want to give you any false hope here but you should know that there is a school of thought that says BCR-ABL occurs in the general population at low levels and that most people's immune system deals with the situation on its own.  It is only a small percentage of people who actually develop CML.  Of course there are others who feel that theory is complete nonsense and that if you have BCR-ABL, then you have PH+Chromosome (PH+ produces BCR-ABL) and therefore you have CML.  So if you fall in the middle like most people should and say I don't know what this means then it would seem prudent to wait until the diagnosis is certain before beginning any kind of treatment.  Again, unless this starts to present as something more aggressive like an acute form of leukemia (unlikely given where you are today) then there is no imminent rush to get on treatment.  Give it some time to figure out what you are dealing with.

If in fact you have CML, it sucks, I'm not going to lie, but it isn't the worst thing for most of us.  I still work, go on vacations, etc, etc, etc and I plan to be around to see my kids grow up.  You will learn to live with a chronic disease if you have to.  Being young and strong and having young kids to motivate you will keep you moving along.  As I like to say, "I don't have the time to be sick, I have a mortgage to pay".  So give it some time and understand that not knowing what you are dealing with is going to be difficult to deal with right now.  Try to look at it as you may not have CML, but there is a good chance you do and if that is the case it is a very treatable disease and you should expect at this time to live a normal life span.

Best of luck in working your way through the diagnostic process.  Come back and ask questions and please let us know how you are doing from time to time.


Date  -  Lab  -  Scale  -  Drug  -  Dosage MG  - PCR
2010/Jul -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 1.2%
2010/Oct -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0.25%
2010/Dec -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0.367%
2011/Mar -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0.0081%
2011/Jun -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0%
2011/Sep -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0.00084%
2011/Dec -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0%
2012/Mar -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0.004%
2012/Jun -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0%
2012/Sep -  MSKCC  -  Non-IS  -  Gleevec  - 400 - 0%
2012/Dec -  MSKCC  -  Non-IS  -  Sprycel  - 100 - 0%
2013/Jan -  Quest  -  IS  -  Sprycel  -  50-60-70  - 0%
2013/Mar -  Quest  -  IS  -  Sprycel  -  60-70  - 0%
2013/Apr -  CUMC  -  Non-IS  -  Sprycel  - 50 - 0.036%
2013/May -  CUMC  -  Non-IS  -  Sprycel  - 50 - 0.046%
2013/Jun -  Genoptix  -  IS  -  Sprycel  - 50 - 0.0239%
2013/Jul -  Genoptix  -  IS  -  Sprycel  - 70 - 0.0192%
2013/Jul -  Genoptix  -  IS  -  Sprycel  - 70 - 0.0034%
2013/Oct -  Genoptix  -  IS  -  Sprycel  - 70 - 0.0054%
2014/Jan -  Genoptix  -  IS  -  Sprycel  - 70 - 0.0093%
2014/Mar -  Genoptix  -  IS  -  Sprycel  - 100 - 0.013%
2014/Apr -  Genoptix  -  IS  -  Sprycel  - 100 - 0.0048%
2014/Jul -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2014/Nov -  Genoptix  -  IS  -  Sprycel  - 100 - 0.047%
2014/Dec -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2015/Mar -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2015/Jun -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2015/Sep -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2015/Dec -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2016/Mar -  Genoptix  -  IS  -  Sprycel  - 100 - 0.0228%
2016/Jun -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2016/Sep -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2016/Dec -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2017/Mar -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2017/Jun -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2017/Sep -  Genoptix  -  IS  -  Sprycel  - 100 - 0%
2017/Dec - Genoptix  -  IS  -  Sprycel  -  100 - 0%
 

 





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