[Lisa V]

Carol,

When your doctor gets the results he will tell you if there are any chromosomal mutations. Mutations in the 5, 7 and 8 positions (of the DNA) are among those more commonly associated with MDS. A trisomy 8 is when there are 3 chromosomes instead of the usual 2 in the 8th position, whereas a monosomy 7 means there is only 1 instead of 2 in the 7th place. I think a 5q is when there is a little extra tail or fragment on the one in the 5th place, but I may have that wrong, so if anybody knows better, please correct me.

Any such mutation is enough to change the official diagnosis to MDS, but it may or may not affect the prognosis (expected outcome). If the results do show a mutation, that would be the first question I would ask. For example, a trisomy 8, if it developed AFTER the original diagnosis (possibly even as a result of ATG/cyclo treatment), is usually not considered to change the prognosis much, but a monosomy 7 would probably be much more serious in its outcome. At least that's my understanding.

Another thing to ask would be the size of the clone. They generally examine only 20 cells, and if only one of them shows the mutation then your clone would be 5%, if 10 of them show it, then it's 50%, etc. You would want to monitor any change in clone size to see if it's growing, shrinking or stable. Unfortunately the only way to do this is with more BMBs.

Aplastic Anemia is characterized by a HYPOcellular marrow, i.e fewer cells in the marrow than there should be. Most forms of MDS are HYPERcellular, meaning the marrow is actually too full, not too empty. However, if you have both an empty marrow and one or more chromosomal mutations, then you may have hypocellular (or hypoplastic) MDS, which can look and act more like AA than it does like hypercellular forms of MDS.

The change in my husband's diagnosis from AA to hypoplastic MDS hasn't changed his prognosis, and he still responds the same to immunosuppressants as he did before. The only thing that's changed is that he'll probably now have to take them for the rest of his life.

Hope this helps,