Leukemia Diagnosis

What are the risk factors for developing leukemia?

I think it's understood by the majority of experts in this field that there are no specific risk factors to identify or put people at risk for leukaemia. This is other than in the secondary leukaemias which are as the result of treatment, and I think in the process of treating patients for other malignancies or when giving patients medications or treatments that put them at risk for leukaemia, it needs to be part of the informed consent and decision making process before undergoing treatment of any type. Most commonly, Hodgkin's lymphoma is a lymphoma that usually affects patients of young age. The combination of chemotherapy and/or radiation puts this patient at risk of leukaemia in the future. The best way to sum it up is to say that there are no particular risk factors that I know of in the literature to identify people at risk for leukaemia, other than the secondary leukaemias as a result of treatment.

What are the symptoms of leukemia?

The symptoms of leukaemia can be varied. I think the most common symptom of any leukaemia whether it be acute or chronic is fatigue. Usually as a result of profound anaemia (and when I say anaemia, I mean low red blood cell count or low haemoglobin). Why does it cause fatigue or a feeling of extreme tiredness? It's because haemoglobin or the red blood cells in your body carry oxygen, and if you have a decreased ability to carry oxygen it manifests as being extremely tired and fatigued. The most common presenting symptom of leukaemia is fatigue. Other symptoms which we do see but can vary based on the subtype include lymph nodes or masses in the armpits or in the neck. Some patients can present with bleeding: gum bleeding, nose bleeding, blood in your urine, blood in your stool. Other symptoms of leukaemia can include symptoms of infection, such as fevers, night sweats, and weight loss.

What tests are used to diagnose leukemia?

I think the most critical and primary test that we do to diagnose leukaemia is a complete blood count which may not be as specific as we want it to be in order to get to the diagnosis of leukaemia, but in some cases, it could be rather alarming and obvious. I think the most common situation in which blood tests shout the diagnosis of leukaemia to you is when a patient shows up with a white count that is over one or two hundred thousand, strong. White blood cell counts should normally be anywhere from five thousand, and eleven thousand, in most laboratory normal values. Any white blood cell count in excess of fifty to one hundred to two hundred thousand, is abnormal. It may represent a chronic leukaemia. It may represent an acute leukaemia but in either way, further diagnostic testing needs to be performed.

What is "immunophenotyping"?

Immunophenotyping is a pathological methodology in which tumor cells or any type of cell is stained under the microscope and looked at under the microscope for the identification of certain characteristics that identify these cells as a certain type or not. Immunophenotyping is utilized on a daily basis in every pathology lab from normal biopsies coming from patients to bone marrow biopsies coming from patients that I treat.

What is "cytogenetics"?

Cytogenetics is the study of chromosomes when it relates to disease. Chromosomes are the genetic material which functions as the blueprint of how a cell functions once it's produced. We deal specifically with cytogenetics when bone marrow biopsies are performed for the diagnosis of leukemia to identify specific genetic mutations that we can identify doing a procedure called cytogenetics. Specifically it involves growing up cells from the biopses and extracting the DNA, or genetic material, and then evaluating each specific chromosome to see if it's normal or abnormal. And there are many methodologies in which that can be done, but the ultimate result is identifying a specific abnormality--a loss of a particular chromosome, an addition of another chromosome, the translocation or transformation of one chromosome to another. All these types of mutations or defects can lead to different malignancies. And moreso for leukemias: chronic and actue, than for others.

What is a "bone marrow biopsy"?

A bone marrow biopsy is a very useful test that we perform. It can be performed in the hospital, or usually in the office, depending on whether or not the facilities exist. It's a very simple procedure usually done with local anaesthesia, but can be done using a conscious sedation type anaesthesia, for patients with anxiety or who have certain situations in which they have issues with pain. It's not normally a painful procedure, but a very quick procedure that involves the extraction of liquid bone marrow and a tiny piece of bone from the backside of your hip, which are usually analyzed within about 24 to 48 hours, in which time we get our results.