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Making sense of my cytogenetic study results

by cgrundy on Fri Apr 25, 2014 8:10 am

Can someone help me read these cytogenetic studies?

Cytogenetics FISH Report Status: Signed Out

Lab Results:
Process:  M     Mitogen: none
Duration:  direct     Banding:  FISH
Media: RPMI       
Number of cells:
ATM, TP53     200
D13S319     209
CSF1R-D5S23:D5S721     200
TCF3     203
ETV6     200
CKS1B     200
IGH-CCND1     200
CMYC     200
 
Probe/Control Range      Patient/Interpretation
17p13.1(TP53)-1copy/0-6.0%      0%/negative
13q14.3(D13S319)-1copy/0-5.5%      4.3%/negative
5q33-34,5p15.2(CSF1R-D5S23:D5S721)-3copies/0-0.6%   0%/negative 
19p13.3(TCF3)-3copies/0-0.6%      1.5%/LOW POSITIVE
12p13(ETV6)-1copy/0-3.0%      0%/negative
1q21(CKS1B)-3copies/0-1.5%      0%/negative
14q32.3-11q13(IGH-CCND1)/0-0.6%      0%/negative
11q22.3(ATM)-3copies/0-0.6%      0%/negative
8q24(CMYC)-bap/0-3.0%      0%/negative
 
Process:  1          Mitogen: none
Duration:  24hrs          Banding:  FISH
Media: BMC            30min colcemid
Number of cells:
D5S23:D5S721       201
CSF1R           201
D7Z1          200
D7S486          200
D8Z2          203
D20S108          203
 
Probe/Control Range     Patient/Interpretation
D5S23:D5S721(5p15.2):1copy/0-2.3%       0%/negative
CSF1R(5q33-q34):1copy/0-4.3%      0.5%/negative
D7Z1(7cen):1copy/0-3.7%      0%/negative
D7S486(7q31):1copy/0-4.3%      0%/negative
D8Z2(8cen):3copies/0-1.5%     0%/negative
D20S108(20q12):1copy/0-6.0%     1.5%/negative
 
Separated: nuc
ish(TCF3x3)[3/203],(CKS1B,CSF1R,D5S23:D5S721,CMYC,ATM,ETV6,D13S319,TP53)x2[
200],
(IGH,CCND1)x2[200]
Non-separated: nuc ish(CSF1R,D5S23:D5S721,D7Z1,D7S486,D8Z2,D20S108)x2[200]

Additional commentary that accompanied the lab results:

This is a bone marrow aspirate from a patient with multiple myeloma. FISH
analyses with probes localizing to CSF1R (5q33-q34) and D5S23:D5S721
(5p15.2), CMYC (8q24), ETV6 (12p13), D13S319 (13q14.3), TP53 (17p13.1),
TCF3 (19p13) (probes from Abbott Molecular), and CKS1B (1q21) (Kreatech)
were performed on magnetically separated CD138 positive cells. Analyses
showed normal signal numbers for the probes for CKS1B, 5p, 5q, CMYC, ATM,
ETV6, D13S319 and TP53 within the limits of these analyses. However, 1.5%
of cells had three signals for TCF3, indicating a gain of 19p. FISH
analysis with the IGH-CCND1 probes (Abbott Molecular) showed no evidence of
a fusion signal and normal signal number for both probes within the limits
of this analysis. These results are consistent with the gain of TCF3 seen
previously in this patient. The gains of 5p, 5q and 11q seen previously in
this patient were not seen in the current sample. Additional FISH analyses
with the probes localizing to 5q33-34, 5p15.2, 7q31, 7p11.1-q11.1, the
chromosome 8 centromere and 20q12 (Abbott Molecular) were performed on
non-magnetically separated cells. Results of these analyses showed normal
signal numbers for each of these probes. This indicates that the sample is
negative for monosomy 5, 5q-, monosomy 7, 7q-, trisomy 8 or 20q- within the
limits of these analyses.

cgrundy

Re: Making sense of my cytogenetic study results

by Multibilly on Fri Apr 25, 2014 8:36 am

First off, I'm not a doc, so please check with one.

<I updated this response later in the day. Changed prognostic impact from positive to neutral. My bad>

But it simply sounds like you don't have any of the mutations to be worried about, but you do have a small percentage of cells with a 19p gain. There are apparently no known prognostic associations with 19p gains.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888588/

So, I would be happy.

But, again, a doctor really needs to interpret this.
Last edited by Multibilly on Fri Apr 25, 2014 4:26 pm, edited 4 times in total.

Multibilly
Name: Multibilly
Who do you know with myeloma?: Me
When were you/they diagnosed?: Smoldering, Nov, 2012

Re: Making sense of my cytogenetic study results

by cgrundy on Fri Apr 25, 2014 8:43 am

Thank you so much for your answer!

cgrundy


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