What is the role of genetic testing in diagnosing AML and determining prognosis?

What is the role of genetic testing in diagnosing AML and determining prognosis?

Genetic testing is crucial. It's absolutely imperative. When you've got a patient with newly diagnosed acute myeloid leukemia because number one, risk stratify the patients into favorable, intermediate or unfavorable, which helps the doctor decide does a patient need to have stem cell transplant is number one. It also tells you what drugs to give. I mean if you have a FLT3 mutation you want to give that patient a FLT3 inhibitor.

It's not only important to test for the genetic mutations at the time of diagnosis, it's also really important to test for genetic mutations of a patient. God forbid relapses, because the mutations can change between when a patient is diagnosed and when a patient relapses. And if you have a new mutation at the time of relapse that is amenable to a new targeted therapy. You want to know that information because you want to give the patient the drug that is going to be the best for their disease at the time of relapse.

Can mutations affect how well a patient is going to respond to chemotherapy and other treatments?

They can. I think they're very important in determining how a patient is going to respond. There are certain mutations, for example mutations in a gene called p53. Those patients don't really respond very well to our standard intensive chemotherapy that we do in the hospital. Many of us have moved to using a different type of chemotherapy. And those patients who have this p53 mutation, because the responses with the standard chemotherapy aren't, aren't as good as we want them to be.

How do mutations influence the likelihood of remission and relapse?

The mutations really determine the risk. So having high risk mutation means that you're less likely to go into remission and you're more likely to relapse. Having a favorable risk mutation means you're more likely to go into remission and less likely to relapse. I mean, it's important to know that what we're trying to do here, or what doctors and researchers are trying to do, is to turn all leukemias into favorable risk leukemias, like we're looking for therapies that are going to take these leukemias that are really unfavorable and make them different, make it so that they are treatable, and so that all the patients that we treat end up going into remission and not relapsing.