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Anyone's cytogenetic test ever come back incomplete?


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#1 Melanie

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Posted 27 April 2014 - 05:33 PM

I've had many BMB and this is the first time my cytogenetic test came back with less than the normal 20 metaphases.  They only got 6 ... all normal, but who knows about the rest. Very disappointed!  The pathologist then ordered a FISH test and that came back at 4%. PCR was at 0.87. We wait and wait on these test results and when they come back where you can't make a full assessment, it's beyond frustrating.  Okay ... I feel better, done venting, but just wondering how often this might happen?  Blessings to all!  Melanie


Dx - 05/2011; PCR: 15.04; Fish: 87% Slow responder due to pancytopenia. Current - Bosulif - Nov: 2012, Mar 2016 lowered to 300 mg. 07/16 back to 400 mg. Clinical trial drug, Promacta, Feb 2013, for low Platelets.
CyCR - Aug 2014, Positive for 1 chromosome Sep 2015. PCR: 12.77 in Oct, 2012 to 0.04 (MDA) in Mar, 2016. 4/2016 - 0.126 (Local lab (IS); 05/2016 - 0.195 (local); 6/2016 - 0.07 (MDA); 7/2016 - 0.03 (local) 9/13/2016 - 0.16 (MDA); 9/26/2016 - 0.31 (MDA); 11/2016 - 0.012 (local); 01/2017 - 0.24 (MDA); 04/2017 - 0.09 (MDA); Cytogenetics show der(1:7)(q10;p10)7 chromosome mutation. Repeat of Sep 2015. PCR - 6/2017- 0.035 (local); 10/2017- 0.02 (MDA)

#2 Trey

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Posted 27 April 2014 - 09:09 PM

It usually means you have low blood counts, and the sample had fewer than normal dividing WBCs.  The cytogenetics test can only use progenitor WBCs which are in a specific phase of dividing (metaphase) so they show their chromosomes clearly, otherwise the chromosomes cannot be seen.  So these types of cells can be somewhat hard to find when cell counts are low.  But it is good that the BMB was negative, even if not statistically significant in sample size. 

If your PCR is International Standard it would suggest you are CCyR, just as your BMB shows.  The FISH at 4% may have some false positives. 

Everything together seems to say you are right about CCyR.



#3 Melanie

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Posted 28 April 2014 - 02:33 PM

Thanks Trey, I couldn't understand why they were only able to get 6 metaphases and you made it much clearer for me. The interesting thing is I have always had low counts and with this BMB they were closer to normal at 3.4, where they're normally below 3.0. Who knows?  My Dr is concerned about it not being a normal sample size, mainly since I've not had a negative cytogenetic test yet and is not as optimistic as you and stating I'm near or at CcyR. Wants to repeat the test in June. I think he has more faith in the cytogenetic testing than molecular at this stage of my response.

The PCR is an increase from last time at this lab (MDA), where last one in Nov was .57. The PCR test I have done at my local lab have not changed much since 2012...all in 3.375 to 2.35 (IS).  I'll have another one done locally in May. I'm assuming MDA uses the IS, as Dr confirmed, but their test is always a log different than my local lab. Think I'll go with whoever has the best result.

It's difficult being a slow responder and waiting for these test results. Even Dr Cortes at MDA said if this last test came back positive, we needed to consider BMT as my best option going forward. Crazy road we travel!  But, Spring is here, weather is beautiful, and got to see 9 of my grandchildren at Easter! I'm so grateful!  Take care everyone!  Melanie


Dx - 05/2011; PCR: 15.04; Fish: 87% Slow responder due to pancytopenia. Current - Bosulif - Nov: 2012, Mar 2016 lowered to 300 mg. 07/16 back to 400 mg. Clinical trial drug, Promacta, Feb 2013, for low Platelets.
CyCR - Aug 2014, Positive for 1 chromosome Sep 2015. PCR: 12.77 in Oct, 2012 to 0.04 (MDA) in Mar, 2016. 4/2016 - 0.126 (Local lab (IS); 05/2016 - 0.195 (local); 6/2016 - 0.07 (MDA); 7/2016 - 0.03 (local) 9/13/2016 - 0.16 (MDA); 9/26/2016 - 0.31 (MDA); 11/2016 - 0.012 (local); 01/2017 - 0.24 (MDA); 04/2017 - 0.09 (MDA); Cytogenetics show der(1:7)(q10;p10)7 chromosome mutation. Repeat of Sep 2015. PCR - 6/2017- 0.035 (local); 10/2017- 0.02 (MDA)




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