SOHO 2023 | The importance of cytogenetics and molecular profiling for accurate AML/MDS diagnosis

So I think as a hematopathologist who has to actually make the diagnosis, I’ll tell you that right now, the challenge is, when I get a case on the first day, when I see the slides, I typically do not have the relevant genetic information that would enable me to make an accurate diagnosis. So what I can see is the morphology, the blast count, oftentimes I have the phenotype within a day or two, but I do not have the mutation profile. I think our center is one of the fastest, and we typically don’t get the mutations back until three or four days after the bone marrow is done. So that I would say is a challenge because for clinical trial enrollment and appropriate treatment, you want to know the genetics and you want to base the therapy on the genetics. I don’t think it’s a major issue because oftentimes patients can wait three or four days to be enrolled in the clinical trials. But again, when I’m trying to make a diagnosis, it would be nice if I had the complete picture information. But what we do right now is we provide the information that is available to us, which is this is a myeloid phenotype, or there is however many percent of blasts- so it’s consistent with an acute myeloid leukemia- and then we wait for the genetics and then issue a final report that incorporates the cytogenetics and molecular profile.