Multiple Myeloma Diagnosis
Tests used to diagnose multiple myeloma
The diagnosis of multiple myeloma is determined by a number of different diagnostic tests, because myeloma is difficult to diagnose on the basis of any single laboratory test result. Accurate diagnosis generally results from consideration of several factors, including physical evaluation, patient history, symptoms, and diagnostic testing results. The initial evaluation to help confirm a diagnosis of myeloma includes blood and urine tests as well as a bone marrow biopsy. Other tests include X-rays. MRIs, CT scans and PET scans.
The standards for diagnosing multiple myeloma are determined by the myeloma diagnostic criteria. This currently requires confirmation of one major and one minor criteria or three minor criteria in a patient displaying symptoms of myeloma. The diagnostic criteria helps to determine the classification of multiple myeloma, whether it is smoldering myeloma (asymptomatic), symptomatic myeloma, or MGUS.
Having all of the appropriate multiple myeloma tests done is very important, as the results will help your doctor better determine treatment options and a prognosis. Many of these tests are also used to assess the extent of the disease and to plan and monitor treatment.
Getting a second opinion
Once your doctor has diagnosed you with multiple myeloma, it is important that you consult a specialist experienced in treating myeloma to further evaluate your disease and help develop a treatment plan. Many health insurance companies will authorize a second opinion—check with yours.
The MMRF can help you locate a National Cancer Institute (NCI)-designated cancer center or a myeloma specialist in your area. Individuals with myeloma are usually treated by a hematologist/oncologist.
Researchers are continually working to better understand the biology of multiple myeloma, and through genomic (study of the tumor cell DNA) studies we have learned that there are many DNA alterations in myeloma cells. The ultimate goal of genomic research is to eventually develop personalized treatments based on the DNA in the myeloma cells of individual patients.
Genomic tests are conducted by analyzing the DNA from the myeloma cells taken from a small amount of bone marrow. Tests are conducted as part of the initial diagnosis and may be repeated periodically. The most common tests are karyotyping and FISH. Other more sensitive tests such as DNA sequencing are used in research studies, and some cancer centers are beginning to use them as well.
To date, there is no evidence to suggest that multiple myeloma is inherited, and the changes in the DNA are most likely due to mutations in the cells that occur in patients over time.
While certain DNA alterations are indicative of how aggressive the myeloma is, patients with DNA alterations do not necessarily have a worse prognosis.
So far, there is limited information from genomic studies to guide treatment decisions, with a few notable exceptions, for example, DNA alteration t(4;14), a chromosomal abnormality. Studies have shown that patients with t(4;14) have better outcomes when treated with a proteasome inhibitor, such as Velcade®.
Since researchers have not yet found any reason to believe that multiple myeloma is inherited, genetic testing is not recommended for family members.
Learn more about multiple myeloma diagnosis
Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del(17p), t(4;14), gain 1q, hyperdiploidy, and tumor load. Neben K1, Jauch A, Hielscher T, Hillengass J, Lehners N, Seckinger A, Granzow M, Raab MS, Ho AD, Goldschmidt H, Hose D. J Clin Oncol. 2013 Dec 1;31(34):4325-32. doi: 10.1200/JCO.2012.48.4923. Epub 2013 Oct 21. Accessed 7/16/14 at http://www.ncbi.nlm.nih.gov/pubmed/24145347.