[Greg H]

Hey Linda!

I cracked the chromosome code. Here's what I found out:

First biopsy on 5/12/2010 showed: 46,XY,t(8;21)(q23:q22.1)[17]

That means:
46 chromosomes total (normal for human)
XY - He's a male.
t(8;21)(q23:q22.1)[17] - In 17 of the cells they analyzed, his chromosome 8 and chromosome 21 swapped some genetic material on their long arms.
Usually they look at 20 or 21 cells, so the other 3 or four cells were probably normal.


Second biopsy on 9/13/2010 showed two different abnormal cell lines:

The first cell line showed:
46,XY - He's still male, with 46 chromosomes.
t(3;21)(q26;q22)[18] - in 18 of the cells, chromosome 3 & 21 swapped some genetic material on their long arms.

The second cell line showed:
49 - showed 49 chromosomes total, instead of the usual 46.
idem - had the same swapping of the long arms of chromosomes 3 & 21.
+8,+8 - I think this means that there were four copies of chromosome 8, instead of the usual 2. It's called tetrasomy 8, if I have it right.
+9 - and it has an extra copy of chromosome 9, which is called Trisomy 9.

So that's what the codes all say. I wish I could tell you what they actually mean in terms of prognosis, therapy, and so on. But that's way above my pay grade.

Trisomy 9 shows up in a bunch of marrow failure diseases but is pretty rare. Trisomy 8 is a common one in MDS.

I'm sort of tempted to wonder the same thing as you are, looking at the first BMB and the second one: One of them has the wrong number after the "t("

On the other hand, this is a weird disease, and my transplant doc has said a number of times that particular abnormalities will sometimes come and go from one BMB to the next.

Doing some searching on the web, the t(8;21)(q23:q22.1) from the first BMB is reported in only one case, a man with RAEB. The t(3;21)(q26;q22) from the second one shows up in MDS and in AML and is linked to low platelet counts That association with AML is probably why you got that unwelcome "unfavorable prognosis" on the second BMB.

I hope that's useful.

On another note, I received the new newsletter from AA&MDS and saw in the cover article from Dr. Gail Roboz confirmation that you need to stick with Vidaza for at least six cycles before calling it quits.

If that doesn't work, I wonder if it might be good to look at one of the HDAC+Vidaza trials that Birgitta mentioned -- or maybe some other trial that's more oriented toward low-risk patients or specifically folks with thrombocytopenia?

Take care!

Greg