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Old Fri Oct 26, 2012, 10:00 PM
natalieianne natalieianne is offline
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Deletion 13q

Anyone have the deletion 13q? What is your experience with treatment and outcome? Thanks!
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Old Sat Oct 27, 2012, 04:01 PM
Lisa V Lisa V is offline
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If you have any chromosomal anomalies, that generally changes your diagnosis from AA to MDS. You might want to check that category.
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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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Old Sat Oct 27, 2012, 06:38 PM
natalieianne natalieianne is offline
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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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Old Sat Oct 27, 2012, 11:11 PM
Hopeful Hopeful is offline
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Originally Posted by natalieianne View Post
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
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55 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. small trisomy 6 clone, low-dose cyclosporine dependent
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Old Sun Oct 28, 2012, 03:44 PM
cdseibold cdseibold is offline
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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.
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Carol, age 75, diagnosed with MDS 9/2012, on wait and watch, recently had blood values drop probably due to Arimixdex, values coming back, but still serious fatigue, recent bone marrow text showed only 2% blasts
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Old Sun Oct 28, 2012, 03:56 PM
Lisa V Lisa V is offline
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Originally Posted by natalieianne View Post
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.
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
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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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