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Wife’s cytogenetic report

.Hi guys. This is Sarah. Jason’s wife. I want to thank you for all the support you have given Jason. We are in the process of getting a second opinion. I recently had to get all my medical records rounded up for that. My first bcr abl was 93 on 8/23/18. 21 on 12/17/18. And 62 on 2/18/19. I had a bone marrow biopsy in August of 18 and February of 19. Both showed that 20 of the 20 cells viewed had the 9/22 translocation. No normal cells were viewed. Not sure if this gives us any further info into my case or not but I know some people had asked about genetic testing. Was that a genetic testing? I am currently off all tks per doctors orders. I meet with my oncologist on Monday. My blood counts had dropped below safe levels. I am going to Mayo Clinic on June 3rd. I am looking forward to it and much needed answers. 

 

Thank you all 

Hi Sarah,

There are a few types of tests for CML. There’s your PCR tests, with your 93% and 62% results and FISH tests which can be on bone marrow (which will have been your 20/20 result.

As a rule of thumb, 10% on a PCR is about the same as 0/20 on a FISH. That’s What we call “complete cytogenetic response” or CCyR.

Have a read of our booklet on CML testing. Page 8 talks about FISH.

https://www.cmlsupport.org.uk/sites/default/files/qrt-pcr-primer.pdf

It starts off simple enough, and does eventually go into quite a bit of detail so revisit it as your knowledge on CML evolves.

 

David.

Hi Sarah,  Yes you've had genetic testing done that shows you have the classic chromosome translocation associated with CML.  Because your CML hasn't responded well to the medications you've taken so far, the next step is to look deeper for a mutation that might be more resistant to certain TKI medications.

I think this is called a BCR-ABL kinase domain mutation analysis.  Maybe this could be done before your visit at the Mayo Clinic so that Dr. Hook can have that result and make a recommendation at that visit.

Good luck at your appoinment today!

Kirk

Hi David,

From what Sarah has said, I'm not sure if she's had a FISH test.  I think the 20 of 20 cells that showed 9/22 translocation were the result of karyotyping which is explained on page 7 of the primer.

On second thought, it's possible the BCR-ABL1 results she's been given could be from either PCR or FISH analysis.  Coincidentally, my first FISH report also showed 93% positive for BCR-ABL1.

Kirk

Kirk, I finally have my own account and can reply with it. 

I met with my oncologist today. Heres what went down:

Blood work, my counts are still way to low and not strong enough to start back up any tki's yet. Still holding treatment until further notice. I will be having weekly blood tests and he wants me to start the tki back up if I can get my platelets up to atleast 50.

They did run a BCR today but will have to wait for the results of that. 

I have another BMB (this will be my third since being diagnosed on 9/22) scheduled for May 15. I did ask for a mutation testing and that will be done during the next biopsy. 

My oncologist said that I am now considered accelerated phase. I am not sure if its from my blood work or just the lack of response to the tki's. I dont really understand it all, its a lot to take in. 

Depending on the biopsy and the results, we may try one more tki. But I am supposed to start preparing for a transplant. there is not a lot of hope of tkis working at this point. We will know in the next 6 months if I need a transplant. 

Thanks for everything. Sarah

Sarah,

from:

https://www.cancer.net/cancer-types/leukemia-chronic-myeloid-cml/phases

"Accelerated phase. There is no single definition of accelerated phase. However, most patients with this phase of CML have 10% to 19% blasts in both the blood and bone marrow or more than 20% basophils in the peripheral blood. A basophil is a special type of white blood cell. These cells sometimes have new cytogenetic changes in addition to the Philadelphia chromosome, because of additional DNA damage and mutations in the CML cells."

There is a good chance that one of the other TKI's will work for you. Bosutinib comes to mind.

Consider having your vitamin D level checked and if low (which I strongly suspect is the case), increase it by supplementing with vitamin D3. I take 5,000 IU's per day to maintain my blood level at 60-70 ng/ml. (summer). High leukemia blast cells (which are a marker for accelerated phase) can be driven to differentiate (and go away as a result) by vitamin D. Vitamin D insufficiency is a contributing factor in Leukemia development. I believe that if I had maintained a high normal vitamin D level, I never would have gotten CML in the first place.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725501/

By increasing your blood vitamin D level, you create an environment conducive to blast cell reduction. Blast cells don't stay as blast cells very long. They differentiate quickly into other blood cells. But they need vitamin D to do it. When I was diagnosed with CML, I was accelerated phase (10-15% blasts). My vitamin D level was 16. Once I started to increase my vitamin D level - to where it is now, my blast percentage fell to zero. It remains zero today. I am also "undetected".

You will get there. You need to be vigilant (Mayo clinic is excellent), maintain weekly blood tests to track counts and hopefully get your blast cells under control.

 

Hi Sarah,  It sounds like you have a good plan of action for the next month or so.  The question is:  Why hasn't your BCR-ABL1 percentage gone down more?

Maybe it's that there is a BCR-ABL kinase domain mutation that isn't allowing the TKI to do it's job.  If that's the case, then the mutation analysis should shed some light as to which TKI would be most effective for you.

Maybe you haven't been able to take a TKI long enough for it to do it's job.  Do you know how many days you've been able to take a TKI since your diagnosis?  If this is the reason for the lack of response, then finding the lowest effective dose of TKI that allows daily dosing over a long period of time might solve the problem.  Did your doctor talk to you about taking a reduced dose of Sprycel when your platelets get higher?

As Scuba said, perhaps your Vitamin D level is super low.  Have you had it checked lately?

I imagine you're rather frustrated at this point.  How are you feeling other than that?  Hopefully you'll have more information soon that will lead to effective treatment.

Kirk

P.S. - For those unfamiliar with your CML journey, here's a link to the last post Jason started:  https://www.cmlsupport.org.uk/thread/13001/not-sure-if-wife-tki%E2%80%99...

Hello everyone. As of now I don’t think her vitamin D has been checked. In my opinion I don’t think she’s been on any tki’s long enough to give them a fair chance. That’s just my Opinion and I’m far from an expert on any of this. I think about a month is the longest she’s been on any tki. I’m really pushing the vitamin D and fasting as of now. I’m not so sure she’s on board with the fasting yet. I know as of now are life’s have been turned upside down with the tki’s not working and all the complications we’ve had since the start. We are both really struggling with all of this and the negative thoughts are all we can focus on. To say the least we are scared to the core. I can only image how scared she is. That being said we are so great full for everyone input and I know we will be ok.