Deletion 13q
 

Anyone have the deletion 13q? What is your experience with treatment and outcome? Thanks!

If you have any chromosomal anomalies, that generally changes your diagnosis from AA to MDS. You might want to check that category.

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.

Here's a good resource that mentions that AA with del13q is "clinically benign" and can be treated like traditional AA. Del 13q can show up in MDS or AA.

http://atlasgeneticsoncology.org/Ano...13qID1310.html

13 q deletion
 

If you look at the article on 13q deletion that suggests immune suppression therapy is more useful for this and that it should not be considered MDS but an idiopathic form of AA, all the patients are hypocellular. I am hypercellular and 13q deletion...go figure.

I am on wait and watch since my blood values are still reasonable.

Very interested in what you find out in this area.

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