Mom has mixed diagnosis MDS/AA-- cellularity less than 5% & 1;7 translocation

[amykdb]

Hi-

I'm new here and really hoping that someone might have some insight for me.

My mom has been diagnosed with: severely hypocellular marrow with a differential diagnosis between aplastic anemia and hypocellular myelodysplasia.

Here's a brief history:
About 3 years ago my mom had a severe case of herpes zoster. At that time when they did her labs, the results indicated a hemotoligcal disorder that was ignored by her doctor, and thus, by her. Her CBCs have remained relatively unchanged over the past three years, and it wasn't until she was in a lot of pain that she started seeing a rheuatologist and hematologist. I'm sure that she still has an underlying autoimmune disorder; her ANA, CRP, SED & RF are elevated.

We first saw a hematologist in November. He was sure that it was MDS until her got her BMB results and saw that her cellularity was less than 5%. At that time, he sent us to the University of Michigan to see a hemaologist there since he thought the BMB indicated AA. The hematologist at U of M did another BMB that she sent to the Mayo Clinic. They found that she has a 1;7translocation resulting in duplication of 1q and deletion of 7q. Again, her cellularity came back less than 5%.

Her recent labs showed:
WBC: 2.5
HGB: 8.1
RBC: 2.29

Her platelet levels are normal. Her blasts are .5. Is this .5% when the normal ratio is 0.0 - 0.0, or is it 5%?

They plan to treat her for MDS and start cyclosporine this week. Has anyone else has a borderline diagnosis? Is treating her with cyclosporine the best course of treatment (she had bladder cancer in 2002 and is in remission without the use of chemo or radiation)? I haven't heard anything about a prognosis but I have read that a 1; 7q indicates a poor prognosis. Is this true? She's 64 years-old and was in great health before the herpes zoster. She was very active, never sat down, etc. Now, she is bed-ridden and can't exert any energy without sweating, and the pain that she's in keeps her in bed all day.

I just want to know what to expect. Can anyone help me understand what all of this means? Also, did 3 years without treatment make her condition worse?

Thanks,
Amy

[Hopeful]

Hi Amy,

I also don't quite fit the profile of either AA or MDS. My first BMB was 20% hypocellular with no dysplasia. My third, done a month later, was normalcellular with 10% dysplasia. So, my doctors don't know what to make of me. I do not have chromosonal abnormalities.

I know that ATG in combination with CsA has been shown to be effective in some people with hypocellular MDS - particularly MDS-RA. Duration of the response is debatable though. I've heard everything from 6 months to 15 years! This is the treatment that I received 4 months ago, and I've seen a hematological response in that I no longer need transfusions but my counts are still low.

Here is a good article on using ATG/CsA for MDS. It gives profiles of the different patients and who responded:
http://www.nature.com/leu/journal/v1.../2403124a.html

There was a recent study completed comparing ATG/CsA with using CsA alone for the treatment of hypocellular MDS. CsA alone can be effective, but the probability of response is less than when used in combination with ATG. Here's an abstract from that study:
http://www.ncbi.nlm.nih.gov/pubmed/18413642
Responses are more likely in younger patients with low ipss scores and hypocellular MDS-RA. (Do you know your mom's subtype?)

Are you in the position to get another opinion before beginning the treatment protocol? It is a tough call. CsA alone is the least toxic approach, but has a lower probability of response than when used in combination with ATG. Also, they will likely want to wait 3-6 month after starting the CsA before trying another approach.

I hope this helps a little. I'm not a doctor - just learning as I go!

I wish you both the best!

[amykdb]

Hi Hopeful,

That does help. Thank for the links to the articles as well. I don't know her subtype; they haven't classified it yet. I had gone to all appointments with her except for her last one since I was traveling and now I just feel like I am at a loss. It's like a puzzle and the pieces don't fit quite right.

Thanks so much for your response!

Amy

[Arlene]

My husband was dx w/ a mixture of AA/MDS in 2005, was evaluated for a bone marrow transplant in Feb 2006, but the doctor decided to try cyclosporin to hold him over until transplant. Well - it worked like a charm. He has been transfusion independent for 3 years. He never did the ATG. Since January of this year his counts started dropping and currently has platelets of around 28, Hct 32 and WBC normal. We are leaving for Bethesda, MD and the NIH this Saturday so he can be evaluated for a clinical trial of a campath infusion. There is no printed outcomes of this trial, but our doctor is saying it has had a 75% response. He is just be evaluated, not sure he will want to do it, but there are no other treatments at this time just MDS drugs/transplant). His cyclosporin has just become ineffective (they did try and adjust this). THe trial is #NCT00217584. He was 59 when he was diagnosis and just turned 63. He has been living well the last 3 years without any symptoms.

[amykdb]

That's great that you are evaluating a clinical trial for him. 75% success rate is very promising!

My mom is currently at the hospital and has undergone 2 treatments of high-dose chemo. The plan is to do a BMT in a few weeks. She has a tremendous amount of fibrosis and her MDS is very aggressive. Her counts have just been tanking over the past few months.

My thoughts and prayers and with you and your husband. Let me know how it goes!