How Are MPNs Diagnosed?

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Andrew Schorr:

Hi, I'm Andrew Schorr on location at MD Anderson Cancer Center in Houston.  We're talking about myeloproliferative neoplasms.  I have one, primary myelofibrosis, so I'm vitally interested.  With me is my doctor, Dr. Srdan Verstovsek, who is an expert in the field. 

Dr. Verstovsek, so people wherever they are in the world wonder if I might have one of these MPNs, what tests should be done to really understand do I have it and what do I have?  

Dr. Verstovsek:

This is very good question.  Like with any other disease, it starts with the history taking.  You want to know whether the patient has symptoms, which symptoms.  Constitutional symptoms means body?wide symptoms including bony aches and pains, itching, night sweating, low?grade fevers.  You want to look at the patient's vital signs including weight.  Is the patient losing weight?  This is starting point then the physical exam.  With myelofibrosis, for example, we want to know whether the patient has an enlarged spleen or liver.  Are there any other abnormalities in the body on a physical exam?  

Then we go to the regular blood testing.  We want to know the blood cell count.  We want to know what types of cells are there.  Are there abnormal white cell counts that come from the bone marrow into the blood, which would perhaps indicate a bone marrow problem?  We want to look at the chemistry.  These are proteins that are released from the dead cells.  For example, one, called LDH, lactate dehydrogenase, is typically high in myelofibrosis.  We want to look at it. 

Then if we suspect that there is a bone marrow disease because everything that you see in the blood and those things that enlarge the liver many times are connected with the production of the blood cells that goes wrong in the bone marrow, you do the bone marrow biopsy. 

And, in general, there are two types of needles that go in a patient's body.  It's a small needle where you suck out the cells, so you get a number of cells that you then analyze for their size and shape.  You send them for analysis of different chromosomes that these are finger?like structures that carry genes inside the cells that may be broken or changed.  You send the sample also for genetic testing to see whether there are any genetic mutations that may happen in these malignant cells.  

And then you go back to the patient with a larger needle.  You will actually screw into the bone a larger needle.  You're sometimes doing it with a machine, and you try to get a piece of the bone marrow, the whole piece to see how is the bone marrow structured inside the bone.  So you get a piece of the bone and bone marrow together, and you can see if there is any fibrosis.  That is the only way.  You stain that piece of the bone because you want to know whether the proteins that are of interest, that, for example, show the fibrosis are presents there.  You have to slice and cut this piece into small pieces.  That's what the hematopathologists do, and they look at them under the microscope under different techniques. 

So you come together with the knowledge about the symptoms, about the physical exam, enlarged spleen.  You know about blood cell count, blood cell type, abnormalities in chemistry and proteins in blood—and the bone marrow genetic testing, chromosomal analyses, how the cells look like, what are their percentages, any other abnormality that would explain the overall picture.  And this is where the diagnosis comes together.  From all these analyses with multiple people being involved, you come up with myeloproliferative neoplasms, and then you try to see which one.  It's not that simple.  

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.