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Cytogenetic test result question


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#1 Melanie

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Posted 19 December 2013 - 12:38 PM

Merry Christmas to all and praying for a New Year full of love, better health, and peace for all!

I have a question on my results from my latest cytogenetic test from BM. It shows

Ph+ clone

46,XX,del(3)(q21q24),t(9;22)(q34;q11.2)[2]

Never seen the del(3)(q21q24) before so does anyone know what that means?  I assume it's another abnormality but what kind?  Since I'm having such a difficult time getting in remission, does it signify an evolution that I should be concerned about?

Thanks, 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 August1

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Posted 20 December 2013 - 09:08 AM

Hi,

I'm fairly new to this but I think that means that there was a deletion on chromosome 3, on the long "q" arm, at bands 21 - 24. To be honest I don't know if this represents anything clinically significant with your CML though. I might ask your hematologist/oncologist.

Best wishes, and Happy holidays!

Bill



#3 Trey

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Posted 20 December 2013 - 09:52 PM

Mel,

This is a BMB cytogenetics analysis of 20 dividing WBCs where 2 were found with this abnormality as shown by the [2] on the end.  The "46" means all the chromosomes are there, so any deletion is partial, not total.  The "t(9;22)(q34;q11.2)" would be the regular CML translocation.  But this adds the "del 3" from q21 - q24 which is a small deletion on chromosome 3 of the WBCs which are leukemic.  Think of it as the end of the leuekemic WBCs had a weed-whacker taken to them and they have been trimmed back a little.  Were the ends important to anything?  Probably not.  Most parts of the DNA are inactive after we are mature adults.  While we would probably rather not see such things, they may not be significant.  The reason is that the WBCs are already leukemic, so additional abnormalities, as long as they do not interfere with the TKI drugs working, are largely irrelevant.  Otherwise, the impact of such mutations in already mutant cells is questionable and mostly unknown except for the results of the TKI drug response.  It would be more of a concern if these mutations were found in the normal WBCs which is not the case for you.

So maybe your slower response has something to do with this, and maybe it doesn't.  The fact is no one knows much about such things, and the knowledge base depends on drug response.  Overall you have attained a reasonable response, although somewhat below average.  I know you have had a less than optimal experience, but that does not mean you will have a reduced lifespan. 

By the way, don't do a search for partial deletions of chromosome 3 and think body parts will be missing.  The chromosomes are separated by body function, and your issue is isolated to the blood cells, and specifically the leukemic WBCs.  This has nothing to do with the other DNA in your body. 



#4 Melanie

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Posted 21 December 2013 - 11:24 PM

Thanks Trey and Bill, your explanations are much clearer than what I figured out and what my Drs explained to me. Although they hesitate to say it doesn't mean the disease is evolving, they really don't know what it means in relation to disease progression.  Because I get a BMB every 3 months, it could just be that they're seeing things that they don't normally have the opportunity to in a normal CML treatment plan. Hopefully these new mutants will just go away in time and not create any issues. Thought I should post the information in case someone else has the experience.

As for researching chromosome 3 deletions...I'll stick with deletions in the blood cell chromosomes and keep my body parts!  Ha, ha!

Thanks again and Happy Holidays 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)




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