Acute myeloid leukemia: genetics, prognosis and treatments

Welcome, today's seminar is on the genetics of acute myeloid leukemia. I'm Stephen Nimer. I'm a physician scientist and I'm the director of the Sylvester Comprehensive Cancer Center at the University of Miami's Miller School of Medicine.

Today I'd like to introduce the disease to you, AML, Acute Myeloid Leukemia, talk a bit about the way we classify this disease, talk about our insights into the pathogenesis or what triggers the growth of these abnormal cells and then lastly, spend some time talking about how we treat this disease both the conventional treatments and some of the latest research that's providing potential new therapies for this disease.

So when you think about cancer in general, you think about a cell that grows abnormally and in acute myeloid leukemia, there are two main attributes. First, the cells don't go through the normal differentiation process. And second of all, the cells proliferate and self-renew abnormally. So really the task is to explain what those two properties of AML mean. There are three types of cells in the peripheral blood. There are white blood cells, red blood cells, and platelets. The white blood cells help us with our immune system and to fight infection, the red blood cells carry oxygen, and platelets prevent us from bleeding. These cells are functional. They are what we call mature cells. And they're all derived from immature cells in the bone marrow. And so the normal immature cells in the bone marrow have no function, but as they mature, they acquire functional characteristics and differentiate into these three different types of cells. So what happens in AML is that these early cells, which we refer to as "blast cells" do not differentiate into normal cells and so they never acquire the normal functional attributes. Instead they accumulate in the bone marrow, which is where they normally live and they spill out into the blood stream. But what happens is they crowd out the normal cells and so over time, a patient will present with leukemia because they have too many of these cells in their blood but really they present because they have too few normal cells. So if you have too few white blood cells then you develop an infection. And if you have too few red blood cells, which carry oxygen, you can't breathe properly and you get short of breath and you get fatigue. And if you don't have enough platelets, you develop bleeding problems, in particular, bleeding into your skin or into the gums of your mouth. And so the way patients present is often with a fever, with fatigue, with bleeding problems, and that leads to the diagnosis of acute myelogenous leukemia or AML.