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Anyone with Trisomy 8 in their BM cytogenenics?


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#1 Melanie

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Posted 30 May 2013 - 12:30 PM

Just wondering what it means and if there's any reason for concern. From what I've been able to determine, it's appears sometimes with TKI treatments, but tends to go away with continued treament. My report says that there's only 10.5% of the 200 cells studied exhibiting the trisomy 8 and that in only one PH+ metaphase. The part that caught my attention was ..."the single abnormal mataphase exhibiting +8,t(9:22) has been associated with CML accerlerated phase."

The rest of the BM cytogenetic report shows 2 PH+ clone and then the 1 PH+ metaphase with the trisomy 8. My PCR was 2.56.

Any info would be greatly appreciated.

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 30 May 2013 - 05:31 PM

For clarification, do you mean the FISH showed 10.5% of the cells  had trisomy 8, or were 10.5% leukemic?  I don't know what it means when you added "and that in only one Ph+ metaphase".  Your cytogenetics showed 1 leukemic cell out of 20 (so 5%).

So the main questions  are: what was the overall FISH result (percentage of leukemic cells) and whether the trisomy 8 was in leukemic cells or normal cells. 



#3 Melanie

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Posted 30 May 2013 - 06:08 PM

Sorry, I wasn't very clear except in my own mind...happens to me a lot.   I'll just copy and paste from the reports for clarification.

Here's the exact wording from the cytogenetic BM:

BONE MARROW CULTURES

Ph+ clone

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

                    2 metaphases photographed/karyotyped

Ph+ metaphase

47,XX,+8,t(9;22)(q34;q11.2)[1]

                    1 metaphase photographed/karyotyped

Diploid female karyotype 46,XX[17]

                    2 metaphases photographed/karyotyped                  

Interpretation (BM)                              

Three abnormal and seventeen normal female metaphases are analyzed. The

previously reported Ph+ clone continues to be present in the bone marrow

indicating persistent disease.

Then here's the Fish:

ADD FISH BM DIAGNOSIS                                    CML                  

Summary (BM)                                     

BONE MARROW CULTURES

FLUORESCENCE IN SITU HYBRIDIZATION (FISH)

nuc ish(D8Z2x2)[179]

                         2 interphases photographed

nuc ish(D8Z2x3)[21]

                         2 interphases photographed                  

Interpretation (BM)                              

THIS IS A POSITIVE RESULT FOR THE PRESENCE OF A CLONE WITH TRISOMY 8.

The in-situ hybridization (ish) technique was performed using an alpha-

satellite (D8Z2) CEP8 probe from Abbott Molecular, Inc.  A total of 200

interphases were analyzed yielding two signals in 179 interphases and

three signals in 21 interphases. These findings suggest that 10.5% of the

cells studied exhibit trisomy 8.

So maybe now you can tell me in simple terms what this means. Thanks Trey!


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 30 May 2013 - 08:29 PM

So your BM cytogenetics showed 3 were leukemic, 1 also had trisomy 8. 

The FISH showed 10.5% had trisomy 8 ("three signals").  It does not say how many of these were leukemic, so that is missing information. 

The BM cytogenetics shows 3 of 20 are leukemic, so 15%.

So overall not CCyR but not very far from it.

The trisomy 8 occurs in some patients taking TKI drugs, and may possibly be a result of the therapy itself.  I have noted that a number of patients here have had trisomy 8 at some point and most do fine, and it disappears as the leukemic cells disappear.  The fact that the trisomy 8 are found only in the leukemic cells is "better" than if they were in non-leukemic cells.  The leukemic cells are already mutants, so you might say "what is a little more mutation among friends". 



#5 Melanie

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Posted 02 June 2013 - 05:43 PM

The leukemic cells are already mutants, so you might say "what is a little more mutation among friends".

Love it...I'm betting on the TKI kicking the little mutant's  _______  and if it can't kill them, then at least send them back to some deep hidden cave in the marrow so they never come out! Down with the mutants!


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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