Additional testing?

[Deanna16]

I was wondering how often all of you out there with MAA or SAA get tested for MDS or PNH? Do you get BM biopsies done every few years or anything to see if something has changed? I only know of one person on here who has been tested for a TERC mutation, anyone else?

Thanks!

[Marlene]

John is post treatment and has not had BMB since diagnosis. He gets checked annually for PNH. He was not tested for TERC mutations since that discovery was not well known back in 2002.

[Lisa V]

I don't think Ken was ever tested for TERC mutation either. Not too many places do that, do they? I've mainly heard of it being done at the NIH. He was tested for PNH at diagnosis, but not since then, as he's never shown any symptoms of it.

He was getting annual BMBs for the first few years, I think it was the 3rd one that turned up his trisomy 8 mutation, which changed the official diagnosis to hypoplastic MDS, although the treatment regimen and prognosis didn't change. He initially showed it in 25-30% of the sample cells, but the 2 subsequent biopsies showed it at only 5%. He hasn't had a BMB in the last couple years, since his counts have been so stable. I'm kind of curious as to what's going on with the trisomy, as well as his cellularity, but I don't want to be the one volunteering him for an uncomfortable and expensive procedure if the doctor doesn't feel it's necessary. The feeling I got was that unless something was going on with his peripheral blood counts that indicated a change, they don't see the need to keep testing him every year.

[Marlene]

I too think they rely more on the peripheral blood counts to monitor John's status. The only reason they check for PNH at Hopkins is because of the clinical trial he was in. They want to track those stats. They usually do a follow-up BMB but I think they felt John had been through enough and have not asked for one.

[Deanna16]

to the best of my knowledge, a variety of places local to most people can test for the mutation and it's sent to one lab in Canada. The trick is finding the right hematologist to interpret the results. Most cannot do that.

[Lisa V]

We've never asked for that test because my understanding is that people with shortened telomeres tend not to respond to ATG. By the time I first heard about it we already knew that he responded to ATG, so there didn't seem to be much point. It would be a good thing to know before trying ATG, though.

[Marlene]

That's my understanding also. And I believe that holds true for High Dose Cytoxan also. So since John was already treated and is in a partial, stable remission, there's really no need to check.

[MichelleD]

Hi everyone,

I had been in my second remission for three years. My counts were great (other than low whites, which have stayed down for the last 6 yrs) when my doctor said we needed to do a routine biopsy. We moved from OH to TX and new doctor wanted to see how things looked for himself. Surprise, surprise...I found out I have PNH (clone size is 47%) and MDS. My chromosome changes were in 17/20 samples. I am considered to be in remission and in the "sit and wait" phase. We did go ahead and start the donor search b/c I have no sibling matches, but my doctors and NIH agree that best thing to do now is wait for things to change. I now will get them yearly unless the counts go down first. I now wish I had the biopsy done sooner. I hadn't had one since my first dx six yrs ago for SAA. I have no idea if I've had MDS for 6 yrs or one. Hope that helps.

Michelle

[Lisa V]

Michelle, you say you wished you'd had the BMB earlier. I get that, I'd be alarmed too if I didn't know how long these changes had been taking place. On the other hand, you say your doctor feels the best thing to do now is just to wait. That being the case, what would you have done differently had you known this earlier? Just curious, as I've never been completely clear on this issue.

[MichelleD]

Lisa,

The younger you are, the better odds of transplants from unrelated donors. If we had know 5 yrs ago, we might have gone directly into transplant. At 41, they dont' want to take that risk right now. I'm now in that 50/50 odds of survival group even with a 10/10 perfect match. I went out of remission last time a few months after they pulled me off the cyclosporin. They thought that was what caused it. Now I wonder if that was when the MDS started.

I know that I am lucky to not be in treatment right now, but at the same time I find it harder mentally not to be doing anything. It's much easier dealing with it, when I feel like I am doing something to fight it, instead of just sitting and waiting.

Michelle

[Deanna16]

Michelle thank you so much for sharing. I found your story to be helpful. My doctor waited "till the very end" for the BMB to diagnosed me and the only thing that really pushed her into doing it was that she wanted to start me on Neupogen and knew the Neupogen would skew future BMB results should I need them. Now, my waiting was only 6 months...but had I gotten the test in June when I wanted to some personal things in my life would be much easier now. I would have most definatly made some differnt decisions that I unfortuantly had to make while waiting to get a BMB...to rule out leukemia, AA was no where on her radar. Thanks again.