|
Bailie,
Great question about having increased blasts without genetic mutations. If I recall correctly, roughly 1/2 of newly diagnosed, non-therapy related MDS patients do not present with chromosome damage. In the past few years, researches have found other genetic mutations or damage that may be the root cause of the evolution from normal to MDS. They call these driver genes, here is a quick passage that lists them:
Driver mutant genes include those of RNA splicing (SF3B1, SRSF2, U2AF1, and ZRSR2), DNA methylation (TET2, DNMT3A, and IDH1/2), chromatin modification (ASXL1 and EZH2), transcription regulation (RUNX1), DNA repair (TP53), signal transduction (CBL, NRAS, and KRAS), and cohesin complex (STAG2).
Most testing for MDS patients doesn't really go this far in diagnosis - it is more of a research nice to know line item, as treatments aren't currently tailored to fixing these mutations yet.
The appearance of blasts and other immature granulocytes in the marrow and blood is frequently an indication of marrow stress - basically think of the factory analogy that GregH was so adept at explaining - if you were to take the factory (your marrow) and force out more production than it was capable of producing reliably, bad product would make its way to the showroom floor (your blood). This is what blasts represent - bad product that is replacing the good product in your marrow and blood. Over time, these bad cells crowd out the good ones, resulting in deteriorated health.
__________________
MDS RCMD w/grade 2-3 fibrosis. Allo-MUD Feb 26, 2014. Relapsed August 2014. Free and clear of MDS since November 2014 after treatment with Vidaza and Rituxan. Experiencing autoimmune attack on CNS thought to be GVHD, some gut, skin and ocular cGVHD. Neuropathy over 80% of body.
|