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Originally Posted by natalieianne
Why? I have read studies with q13 deletion and aplastic anemia and my doctor has never mentioned MDS to me. Where did you get your information so I can research that too and form some questions before my next appointment. And thanks for suggesting I look in the other form.
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That is what we were told when Ken's trisomy 8 was discovered-- that any abnormal cytogenetics automatically changed his diagnosis to hypocellular MDS. It has not, however, changed his treatment approach. He had his second ATG after that diagnosis, and has had a good response, so despite the official wording, we continue to think of it as AA.
I was searching to find some reference citing that as part of the differential diagnosis, as I'm sure I've read that somewhere, but apparently it is more open to interpretation than I thought. I found this quote from Drs. Maciejewski and Risitano:
"The requirement of normal cytogenetics for the diagnosis of AA is a subject of controversy; in a proportion of patients, cytogenetic analysis may be not informative. Most experts believe that the presence of karyotypic abnormalities at presentation is only consistent with the diagnosis of MDS. However, in many reports, cases of “AA with abnormal cytogenetics” have often been included."
Here's the full text:
http://asheducationbook.hematologyli...005/1/110.full