MDS vs Myelofibrosis?

[lacanada1]

Hello. Another question to throw out there:

Does anyone know of cases of myelofibrosis being confused for MDS? I have been diagnosed with MDS-RMCD (currently on growth factor therapy). My bone marrow 'issues' were first discovered more than 4 years ago, when I was in my late 20s (now in my early 30s). In that time, I was told at first I had hypolastic anemia that was becoming AA, a year or so later, they thought I was 'rebounding' after what must’ve been a ‘bone marrow insult’ but still had some signs of 'fibrosis' in my marrow, a year after that and since then, they’ve told me I have a slowly progressive MDS with no cytogenetic abnormalities. My white cells are back up now, but Hgb has ever-so-slowly declined in the past two years, bit by bit.

On my own, I recently had a genetics test on 23andme.com. I know that I shouldn't take it all seriously, but of all the diseases, traits, etc, that it scans for, I came up with 'substantially higher risk' for myeloproliferative disorders and CML. The report stated that I have a predisposition to develop a JAK2 mutation, which is apparently the cause for myeloproliferative disorders. I told my hematologist when I last saw him a couple weeks ago, and he said that the test was wrong and based on shaky science, and that I am JAK2 negative. I have definitive MDS, he insisted.

I'm all a bit confused now. Anyone ever heard of myelofibrosis masking as MDS?

[Birgitta-A]

Hi lacanada,
I am one of the patients of this forum who has MDS/MF. My preliminary dx was MDS but after two BMB:s the dx was canged to MF (myelofibrosis). I had very severe bone marrow with few cells at dx. My spleen is not enlarged as in 95 % of the MF patients and I am JAK2 negative. After one year I got neutropenic fever after 3 infections. A new BMB showed MDS.
Kind regards
Birgitta-A
73 yo, dx MDS 2006. Transfusion dependent at dx. Supportive therapy with blood txs, Desferal and Exjade for iron overload and Neupogen for low WBCs. Since 2010 Thalidomide + Prednisone with positive result. Latest tx Sept 2010. Latest counts HGB 123, WBCs 4.0 and platelets 85.

[DanL]

Hi Lacanada,

Like Birgitta, I too have some of the overlap mds/myelofibrosis diagnosis. I started with MDS - prominent dysplasia in the platelets and minimal in the red and white cells, second biopsy showed myelofibrosis with some dysplastic features, third and fourth showed MDS RCMD with grade 2-3 reticulin fibrosis. I had several proliferative characteristics in my platelet line in all biopsies and suffer from thrombocytopenia - other counts are normal. I am JAK2, MPL negative, have trisomy-8, am transfusion free thus far, 2 years after initial diagnosis.

The real interesting part is that treatment can be confusing for an overlap as some people will respond well to vidaza, others to thalidomide or revlimid, depending on the person.

The main thing is that i keep hearing from the doctors is that if you are going to go through transplant, it is important to begin treating before the reticulin fibrosis turns to collagen fibrosis, and of course before conversion to aml as that is where patients experience pronounced cytopenias and added complications.

Sorry for the long response that wasn't exactly on-target. The real answer to your question is that typically pure myelofibrosis does not have substantial dysplasia associated with it, and the presence of dysplasia lends itself to the MDS diagnosis.

[lacanada1]

Birgitta, Dan,

Thanks v much for your responses. I guess it seems that the two conditions are very inter-related. It's hard to put these marrow issues into a simple box (which would make things so much easier)!

Cheers