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Confused on lab results


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#1 Melanie

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Posted 05 October 2015 - 12:07 PM

After being negative for a year for the PH+ chromosome, my latest test came back with one positive.
Summary (BM)
THIS IS AN ABNORMAL RESULT SHOWING A PREVIOUSLY REPORTED T(9;22) WITH NEW
ABERRATION(S).

BONE MARROW CULTURES
46,XX,t(9;22)(q34;q11.2)[1]/46,XX,+1,der(1;7)(q10;p10)[7]/46,XX[12]

Have I loss cytogenetic response?

My PCR actually continued to decline from 0.26 to 0.06 (MDA scale, which I understand is not exactly IS)

A b3a2 BCR-ABL1 fusion transcript coding for the 210kDa BCR-ABL1 fusion protein is detected by quantitative real-time RT-PCR.
The percentage of BCR-ABL1 to ABL1 transcripts is 0.06.

Waiting on Dr to email explanation but would like input from this knowledgable forum. Once someone has reached CR, don't they usually just test PCR then. Could this positive PH chromosome just be a loner that by chance got in the sample, which may happen all the time anyway, but we're unaware of because we don't get tested for it anymore? Does it matter at this level? Is PCR more important at this point?

Ugg...and things were going so well...

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 05 October 2015 - 09:25 PM

Melanie,

I will break this down into pieces:

 

20 WBCs were examined from the BMB.

 

46,XX,t(9;22)(q34;q11.2)[1] -- You have one "regular" CML Philadephia Chromosome

 

46,XX,+1,der(1;7)(q10;p10)[7]  -- You have a translocation involving chromosomes 1 and 7, in 7 of the cells examined, which is not a "regular" part of CML

 

46,XX[12] -- 12 cells were completely normal

 

The t(1;7) translocation is a new twist.  I am not trying to diagnose the additonal translocation, but the Onc will likely want to discuss Myelodysplastic Syndrome (MDS) so you might want to read about it before the appointment.

 

Where/who is your Onc?


Edited by Trey, 05 October 2015 - 09:26 PM.


#3 Melanie

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Posted 05 October 2015 - 10:04 PM

Thanks Trey! I have two oncologists that I see, one local and then Dr. Cortes at MDA. I'm in a clinical trial at MDA on eltrombopag for low platelets, so I'm there every 6 months for BMB as per trial protocol.

 

Could the 1 and 7 translocation disappear on its own? It seems I've had many of these abnormal chromosomes over the years and they seem to disappear on their own, like the trisomy 8.

 

I'll read up on MDS...Is it common to have both CML and MDS?  It's been 4.5 yrs since dx and thought we finally had this thing stabilized this past year.  

 

Thanks for your explanation...you make it so much easier for me to understand.


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)

#4 Trey

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Posted 06 October 2015 - 08:25 AM

The t(1;7) translocation is not like the trisomy 8 or monosomy 7 which can go away on their own.  A key here is that this new translocation is in your non-leukemic cells.  So the treatment of the CML will not cause the secondary translocation to disappear as the TKI drugs kill off the leukemic cells since they are not in the same cells. 

 

The developing t(1;7) issue could have been the originating cause of the low platelet problems you have had for some time.



#5 Melanie

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Posted 06 October 2015 - 09:52 AM

Well I read up on the MDS... Not good night time reading.

My local oncologist has always thought there was another underlying reason for my low counts. Do you think it's possible that TKI usage can eventually cause MDS in some cases, similar to the way chemo therapy can?

Dr Cortes is sending me a kit to retest the PCR and Fish to verify these results. Maybe it's all just a lab mess up. I'd be okay with that!
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)

#6 Trey

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Posted 06 October 2015 - 08:02 PM

I don't think the TKI drugs cause MDS, but they may cause trisomy 8 and monosomy 7 which can look like MDS but are not.  But the TKI drugs do not cause t(1;7).

 

Good idea to re-test. 

 

At home PCR/FISH kit?  Wow.  Put it on UTube.  "How I test myself at home for secondary chromosomal abnormalities".  It will go viral.



#7 Melanie

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Posted 06 October 2015 - 11:17 PM

Trey...you make me laugh! You tube...I can see it now. Ha, ha!
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)

#8 Melanie

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Posted 09 October 2015 - 10:23 AM

A quick update in case anyone else ever has these type of results. After doing much research and scaring myself about MDS, I heard back from Dr Cortes last night.

On the question of if I'm losing CCyR, He says one cell with the Philadelphia chromosome is a potential concern but the molecular test came back very good. This discordances are occasionally seen. We!ll repeat the FISH and PCR in a month. Usually on repeat we do not see the Philadelphia chromosome anymore. If we do we may be losing response and might need to consider different therapies.

Then he says about the scary t(1;7) appearance ... The other chromosome changes are in cells with no Philadelphia. We see changes such as these in about 10-15% of patients. Most frequently they do not translate into any problem and many times go away on their own. For now we just need to continue monitoring. This does not represent progression of the disease.

Music to my years...slept like a baby last night! Concerned, but just monitor right now and everything might just go back to where I was. No need to clean out those closets yet! Ha, ha! And Trey, going to wait on that video release too...
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)

#9 Kellyb333

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Posted 09 October 2015 - 11:30 AM

That's great news!!

#10 Tedsey

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Posted 09 October 2015 - 12:04 PM

Phew!

 

Sending good vibes your way!

 

Tedsey



#11 Trey

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Posted 09 October 2015 - 07:19 PM

If that is the case one would assume it might disappear on its own over time.  The monosomy 7 is certainly one of those issues.  Let's hope this t(1;7) is also one.






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