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Old Sat Sep 9, 2017, 12:52 PM
Hopeful Hopeful is offline
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Join Date: Jan 2009
Location: California, USA
Posts: 715
Quote:
Originally Posted by Rarity View Post
You mentioned that your husband has trisomy 8. This is thought to be a prognostic marker of immune mediated MDS that is responsive to IST. So keep this in mind, should his status change.

***Not understanding what this means? If you wouldn't mind explaining, I'd appreciate it. Thanks!
Hi Rarity,

First a disclaimer...I am not a doctor or in the medical field but just try to keep up-to-date on the latest research

Trisomy 8 is a mutation that is seen in both Aplastic Anemia and MDS. Is your husbands marrow hypocellular? Does he have significant dysplasia or other cytogenetic abnormalities? Does he have blasts? What are his CD34 levels (from his BMB flow cytometry report).

If his trisomy 8 mutation was caused by an immune attack that went awry (like from his bad virus) it could be that he would respond to Immune Suppressive Therapy (ATG/Cyclosporine). My understanding is that there is a subset of MDS that evolves from AA. The theory is that this is because an immune attack is going on that eventually damages the stem cells causing full blown MDS.

Recent presentations that I have seen show that trisomy 8 [and trisomy 6] can be markers for an immune attack.

Does your husband have a PIG-A mutation? If he hasn't been tested for this (PNH) he should, as that is another indicator that an immune attack is/was present.

Also, how big is the trisomy 8 clone?
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52 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
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