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Old Fri Aug 26, 2011, 09:32 AM
Greg H Greg H is offline
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Join Date: Sep 2010
Location: North Carolina
Posts: 660
New BMB Results: Goodbye Trisomy 8

Hi all!

Sorry to disappear; my daughter is visiting and the days have been pretty full. Plus, I wanted to wait until I got the full report on my latest bone marrow biopsy before writing it up.

Those results were, in fact, pretty interesting. Unfortunately, I don't have, at the moment, much in the way of advice from my doctors about what they mean in terms of future treatment.

The big news is that my Trisomy 8 has disappeared. Vanished. Poof!

This BMB included both the usual metaphase analysis, where they line all the Chromosomes up on a slide and take a look. I have an actual picture of this from an earlier BMB; and, sure enough, there are three copies of the Number 8 Chromosome.

I have a picture of the new one, too. Only two copies of Chromosome 8 in all 20 of the cells analyzed.

We also did FISH, the high-tech version of chromosomal analysis, where they use probes for specific abnormalities in a sample of 200 cells. No Trisomy 8.

Well, that's not exactly true. Like most lab tests, these FISH tests apparently have a reference range (though I haven't before gotten the detailed copy of my FISH that included that level of information). We tested for the chromosomes usually implicated in MDS: 5q, 7q, 8+,11q23, and 20q. Of the 200 cells analyzed, I had abnormal nuclei as follows 5q:2, 7q:1, 8+:2,11q23:0, and 20q:6. All of these were below their respective reference ranges, leading the lab to proclaim "a NORMAL result."

What is not NORMAL, however, is Chromosome 1. A duplication of the long arm of Chromosome 1 (dup1q:21-32) was the first abnormality spotted in my bone marrow, and it is still there. I had this issue in 9 of 20 cells in my first BMB, 8 of 20 in my second; and 9 of 20 in my third (which was when it was joined by Trisomy 8 in all of those same cells). This May, six months post-Campath, the Trisomy 8 had dropped to 3 of 20 cells, but the dup1 was found in 17 of those 20 cells. Yikes!

Now, in the metaphase analysis, we're back down to 8 dup1 cells. And, for the first time ever, we did FISH on Chromosome 1, and found it in 23.5% of the cells analyzed.

What does all this mean?

Beats me. I haven't yet talked with Dr. Matt Olnes or other folks at NIH about the results.

I have to think that the Trisomy 8 was, in fact, some sort of collateral damage resulting from my immune system attacking cells in my marrow. The Campath shut down the attack; and the Trisomy 8 gradually vanished.

But the dup1q:21-32 is still there. And none of these tests really tell us whether that population of messed up stem cells is getting bigger or smaller, because none have a sample that's really statistically significant -- or so the docs tell me.

Meanwhile, my transfusion interval has settled in at every other week, when it was every four weeks back in the Spring.

If we think there's some chance that the dup1 population is going to follow the Trisomy 8s and shrink, then I'll put up with every other week transfusions until my one year NIH follow-up in November. I'm curious to see what Dr. Olnes thinks about all this, and will definitely report back after I speak with him.

Take care!

Greg
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Greg, 59, dx MDS RCMD Int-1 03/10, 8+ & Dup1(q21q31). NIH Campath 11/2010. Non-responder. Tiny telomeres. TERT mutation. Danazol at NIH 12/11. TX independent 7/12. Pancreatitis 4/15. 15% blasts 4/16. DX RAEB-2. Beginning Vidaza to prep for MUD STC. Check out my blog at www.greghankins.com
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