GENETIC MUTATIONS GIVING FURTHER INSIGHT INTO HEMATOLOGIC MALIGNANCIES, POINTING OUT WHERE ABNORMALITIES ARE WHICH WHICH WILL IMPACT SIGNIFICANTLY RESEARCH FOR THERAPY.

While Multiple Myeloma seems to result from amplification of major pathways with Ubiquitinated molecule persistence being one of the major therapeutic interventions (as a result of proteasome inhibitors), most likely by feedback blockage of major pathways and mitotic check point arrests, Myelodysplasia and Leukemia are going purely NUCLEAR.  SF3B1 mutation now associated with Refractory Anemia with ring Sideroblasts and cases of Chronic lymphocytic leukemia, putw us square and fair into the realm of m-RNA splicing.  The new interest in SETBP1 ties some case of mental retardation to elevated risk of Anemia. (Schinzel-Giedion Syndrome).  But remember, the elevated risk of AML in Down Syndrome-Coincidence or similarity, is the question!

Finding abnormality in the PRPF8 gene in dysplasia and leukemia brings back and re-enforces that splicing abnormality may be a significant driver in these conditions.  These findings cast doubt that researchers pushing drugs treating myeloma in Leukemia treatment  may meet disappointment.  It is another animal all around!

Abnormality in CSMD1 gene (regulator in the complement system) caught our attention. Is this an insight into immunodeficiency in Dysplastic syndrome...?  we will follow-up!

Another gene PPFIA2 is down regulated by Androgen therapy in prostate cancer, if it is significant, can we use this as predictive indicator in a therapeutic strategy?

We can't seriously finish without talking about the RUNX-1: what a major target since differentiation lays here.  But is differentiation a meaningful target?  Remember, allowing these cells to fully mature may lead them to Apoptosis... so let's weigh this one! 

The future is exciting in Research!