I had a wonderful patient. A fantastic friend. He was diagnosed with AML. 21 days later he died.
The family, upon learning the diagnosis said, "Is he going to do ok?" Sadly, given his age, I said probably not. But......his cytogenetics looked good.
Way back when, we classified this disease according to microscopic morphology. It was classified on how it looked visually. This led to some good, albeit not perfect classification.
We then used our rudimentary cytogenetics studies. This led to some helpful poor and good prognostic help. Again, not perfect, but better. Well, my friend's cytogenetics were great. So I suggested that, we may be surprised........
Despite this, he died. 21 Days later. Why? Was there something else? Perhaps some genetic alteration that was not screened for. Could I have had some better prognostic tools?
Well, we sent for some experimental marker, which returned too late. NEJM has recently published a study on these markers. Yes, I did something experimentally. Why? My friend was dying and I needed some insight.
"We identified at least one somatic alteration in 97.3% of the patients. We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 andPHF6 were associated with reduced overall survival (P=0.001 forFLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival"
Despite good cytogenetics, my friend died, 21 days after diagnosis.
FLT3-ITD positive.........results returned 5 days after death.
Why can't we do these faster? Why didn't it get sent right away? I should have forced the provincial Oncologist to send ASAP.
I will from now on. In remembrance of my friend.
The Sherpa Says: We have to get these studies out in publication quicker. We can't move the ship of personalized medicine forward without quicker peer review and publication!
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