[Darice]

Birgitta-A and Mausmish

Thank you both ever so much . . . this is wonderful information. I'm still making my way through a lot of it, but have learned much so far. I think the pertinent line in my hubby's BMB analysis is:
46,XY,t(6,17)(p22;q25)[4]/45,XY,-7[4]/46,XY[12]

Now, as I understand it, we are analyzing 20 cells here. Four of them have a translocation with parts of chromosomes 6 (area p22) and 17 (area q25) trading places. Another 4 cells have only 45 chromosomes, missing chromosome 7 (and I know this is a bad one to be missing). The other 12 are OK. Is that right? Also, I take it that we have monosomy 7 here, but with only one other abnormality, so it is not considered complex abnormalities. And it is the entire chromosome 7 (one of the two copies, that is) that is missing, not just pieces of it? And is it encouraging that 60% of the cells are "normal" or is that not statistically significant given the smallish sampling?

He has had numerous BMBs in the past, but the diagnosis of the MDS came with a BMB in mid-March 2011 followed by another one in mid-May 2011. I seem to have the printout from the most recent one (May), but the above line comes from a section labeled "Previous Studies" so I am guessing it is from the March BMB. It also has the following two lines:
FISH, Negative for t(14, 18)
FISH Positive for deletion/monosomy7, 30.3% of cells

So why do they specifically test for a translocation of chromosomes 14 and 18 and is it good or bad to be negative for that non-translocation? And why does it show positive for monosomy 7 in 30.3% of the cells when it only notes 4 cells as being positive for monosomy 7 . . . which would be 20% of the cells (30.3% would indicate 6 of the cells positive for monosomy 7)?

Then, we have:
FINAL REPORT
Fluorescence in situ hybridization analysis
Interpretation: POSITIVE for 7q deletion/monosomy 7, 51.5% of cells
D7S486/D7S522 (7q31)-Green, Control/enumeration probe ELN (7q11 23)-Red
1 of 200 cells (0.5%) showed one signal for 7q31 (normal range <5%)
103 of 200 cells showed one signal for 7q31 & one signal for 7q11 (normal range <2%)

It seems that we have jumped to looking at 200 cells rather than 20 and also that now 51.5% of them are positive for the 7q deletion/monosomy 7. The "q" part wasn't in there before . . . is that important? I know I shouldn't freak out about the increase from 20% to 30.3% to 51.5% because we are looking at relatively few cells here and it's not fair to extrapolate 20 or 200 cells to the entire body. But, has something changed with the "q" part? or the talk of "(7q31)-Green" or "ELN (7q11 23)-Red"? And can I assume that because the t(14, 18) isn't listed does that mean the abnormality wasn't found this time around? And would that be good or not statistically significant?

Mausmish:
It looks like Vidaza has worked wonders for you . . . are you still on it or have you been able to stop after a year of "no abnormalities"? Are you considered to be in remission?

Again, thanks for all this great info . . . I'm learning, I'm learning.