Testing & Diagnosing
Determining you have multiple myeloma may take time because there is not one telltale symptom that signals you or your medical team about your illness. Common symptoms, such as fatigue, bone pain, infections and fever, can be attributed to other conditions. Sometimes, no symptoms are present, and the diagnosis comes as a result of blood or urine tests that are performed for another reason.
A definitive diagnosis must include one of the following:
- A very high proportion of plasma cells in the bone marrow
- Biopsy results indicating a plasma cell tumor
Abnormal plasma cells making up 10 percent of the cells in the bone marrow, plus one of the following conditions:
- An abnormally high level of M-protein
- Anemia (low red blood cell count)
- Hypercalcemia (increased blood calcium level)
- Poor renal (kidney) function
- Abnormalities or holes in the bones or bone marrow found on an imaging test
- An increase in one light chain (antibody protein) to a level 100 times that of the others
The following tests are used to identify multiple myeloma. Many may be used after diagnosis to monitor the disease and determine the effectiveness of treatment.
Blood and Urine Laboratory Tests
Your doctor may order one or more of the following:
24-hour urine protein test to measure the levels of specific proteins that may indicate the presence and extent of multiple myeloma. Other substances, such as creatinine (Cr), are also measured.
Beta-2-microglobulin test to look for a protein in the blood made by cancer cells. A high level may indicate a large number of cancer cells.
Blood chemistry to measure blood urea nitrogen (BUN), creatinine (Cr) and other substances. Higher levels of BUN and Cr can indicate impaired kidney function, which is common with multiple myeloma.
Complete blood count (CBC) to measure the levels of white blood cells, red blood cells (including hematocrit and hemoglobin) and platelets in the blood. Low counts may indicate the presence of excessive myeloma cells in the bone marrow.
Free light chain analysis to look at a specific part of an antibody in the blood known as a light chain. The presence of increased numbers of one type of free light chain (i.e., not part of intact antibody) is associated with multiple myeloma, monoclonal gammopathy of undetermined significance (MGUS) and amyloidosis (a rare disease caused by a buildup of an abnormal protein).
Immunofixation (IFE) to identify and measure small amounts of abnormal protein in the blood (serum immunofixation) or urine (urine immunofixation).
Quantitative immunoglobulin to measure levels of major subtypes of antibodies, also known as immunoglobulins.
Serum protein electrophoresis (SPEP) to measure the proteins in the blood. It can also indicate the presence of the M-protein created by myeloma cells. Knowing the levels helps your doctor determine the diagnosis and extent of the disease. During treatment, levels are tested to monitor the effectiveness of therapy.
Urine protein electrophoresis (UPEP) to look for an M-spike, which occurs when M-proteins are excreted by the kidneys into the urine.
Your doctor may collect multiple samples for examination by a pathologist (a doctor who specializes in diagnosing disease by studying cells and tissues under a microscope).
A bone marrow biopsy is usually taken from the pelvic bone.
Bone marrow aspiration is usually done as part of a bone marrow biopsy. A bone marrow aspiration involves removing liquid bone marrow.
A biopsy of fat, also called fat pad aspirate, may be taken from around your stomach to check for amyloidosis, a buildup of amyloid, which is an abnormal protein.
One or more of the following imaging tests are routinely used to determine the extent of disease, progression (if and where it has spread) and damage caused by the disease.
Computed tomography (CT) is used to look for tumors or abnormalities in soft tissues.
Magnetic resonance imaging (MRI) uses magnetic fields instead of X-rays to visualize internal structures of the body.
Positron emission tomography (PET) creates images of organs and tissues and can be helpful in determining sites of involvement by cancer. PET should be combined with CT, which is known as PET/CT.
X-rays use a low dose of radiation beams that create images of structures inside the body. Your doctor may use these images to look for bone damage.
Specialized Testing Results Help Guide Treatment
Your doctor may perform molecular testing on the tumor or bone marrow sample to look for specific chromosomes, genes, proteins and other factors that help doctors understand how the disease may behave. These results enable doctors to develop a more personalized treatment plan.
Cytogenetics is the study of evaluating cells for chromosome abnormalities by looking for genetic changes at the DNA level. Abnormalities, such as chromosomes that are broken, rearranged or missing, may indicate the level of disease.
Fluorescence in situ hybridization (FISH) is a test used to look for abnormal cells that may be associated with a more advanced myeloma. A fluorescent dye is used to highlight specific genes or areas of chromosomes under a microscope.
Doctors may test for measurable/minimum residual disease (MRD). This looks at the number of cancer cells that are usually present in bone marrow. MRD positive means disease is still detected. MRD negative means no disease is detected.