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Old Sat Jan 26, 2008, 12:51 AM
Lisa V Lisa V is offline
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Join Date: Aug 2006
Location: Waimanalo, Hawaii
Posts: 401
Trisomy 8 and hypoplastic MDS

Ruth, you say that some instances of apparent transformation from AA to MDS could have been based on a misdiagnosis to begin with, but whether it was AA or hypoplastic MDS, did your marrow suddenly go from being hypocellular to being hypercellular? I'm curious as to what would be involved in that process, and how common it is.

Dan, are you the same Dan from Aplastic Central? If so, we've talked about Trisomy 8 before, but I don't recall ever hearing a connection between it's onset and having had ATG. Could you elaborate on that?

Briefly, my husband did develop a Trisomy 8 mutation following his first ATG (or at least that's when they discovered it), which was considered enough to change his diagnosis from AA to hypoplastic MDS. I've often wondered if he was misdiagnosed to begin with, but aside from the name, his disease still acts like AA, so we still think of it as AA. His marrow is hypocellular, and he has responded to immunosuppressant treatment. ccartbmw, he had a second ATG following a relapse when his cyclosporine was tapered off. They gave him double the dose the second time, and he has shown a stronger response to it this time too. He continues having to take the cyclosporine, which apparently is usual in Trisomy 8 cases, but it's been a couple of years now and he's doing okay.

We are in the same position of having a sibling match but not wanting to risk a transplant. As long as the IST is working, there's no need to, but I'm just wondering what the odds are that his hypoplastic MDS might become hyperplastic, which would then not be likely to respond to ATG.
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-Lisa, husband Ken age 60 dx SAA 7/04, dx hypo MDS 1/06 w/finding of trisomy 8; 2 ATGs, partial remission, still using cyclosporine
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