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Understanding MDS/MPN Overlap Syndrome

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Published on February 13, 2014

Dr. Naval Daver, assistant professor in the department of leukemia at MD Anderson Cancer Center, helps listeners to understand the sometimes complex world of myelodysplastic/myeloproliferative neoplasms (MDS/MPNs). Dr. Daver shares information on the latest research for a recently recognized diagnosis called MDS/MPN overlap syndrome, which occurs in about 10 percent of all patients with MDS. He stresses the importance of an accurate diagnosis in order to determine the most effective treatment option for this condition. Dr. Daver also explains his involvement in an ongoing study at MD Anderson Cancer Center of the largest cohort of patients with MDS/MPN overlap syndrome.


Transcript | Understanding MDS/MPN Overlap Syndrome

In our continuing effort to help you to understand anything that may be related to MPNs, myeloproliferative neoplasms, we want to talk to a specialist who is here at the meeting of the American Society of Hematology from MD Anderson Cancer Center in Houston, and that's Dr. Naval Daver.  Thank you so much for being with us. 

It's about 10 percent of all patients with MDS or myelofibrosis, which in itself is not a big proportion, but the total number can be significant.  I mean we would see about 15 or so of these a year.  And what's really important is that it's very unclear as to which group they belong in, and so the treatment has always been kind of enigmatic.  Should we treat them as MDS, myelodysplastic or as myelofibrosis? 

To make things worse, the outcome in this group is actually inferior to both patients with isolated myelodysplasia or patients with isolated myelofibrosis, and so there is a big need to, first of all, identify these patients, recognize what treatments work, and then hopefully improve outcomes and survival.  

What we've noticed is out of those 86 patients, one is that they're much older than the average myelofibrosis or dysplastic patients.  The age is about 71 years at median age, which is pretty significant.  Almost 92 percent are above the age of 60, so we're definitely dealing with an older cohort of patients. 

Also, the JAK2 mutation was present in only about 30 percent of patients in which it was checked, so it's much less than polycythemia vera or essential thrombocytosis or or myelofibrosis.  But about 40 percent did have splenomegaly, which is very uncommon in MDS, falls more with myelofibrosis, and about 70 percent had constitutional symptoms, which again falls more with the myelofibrosis. 

So it looks like they have both features of fibrosis and dysplasia, and it definitely can be even clinically you could probably identify these patients once you know that there's a separate entity like this.  And so that's what we're looking at.  Now, the big question in this group is, first, what are the molecular mutations that these patients have, because that may give us the first hint of just like we knew about the JAK2. 

And so we do recommend that if you have this diagnosis on the bone marrow biopsy that you should go to one of the big centers, MD Anderson or other centers where, again, we are still learning about it. But at least we have some ideas, and we have a clinical protocol that is focusing on this treatment. 

Dr. Daver:


Thank you for being with us.  Remember, knowledge can be the best medicine of all knowledge.  

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