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TESTS YOU REALLY NEED

Baseline testing is required to:

Click to view and/or download the slides for Step 2.

ASH 2011 presentations that address STEP 2

REFERENCES

©2011 International Myeloma Foundation

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Genetic

Genetic Testing is performed on a patient's bone marrow biopsy specimen at the time of diagnosis to help predict the behavior of the myeloma and its response to various treatment strategies.   A patient's biopsy specimen may be sent to a large academic center for genetic testing if the local oncologist is not associated with a laboratory that is equipped to perform the tests.

  • Conventional Metaphase Cytogenetics  (karyotyping) is a test in which the bone marrow biopsy specimen is placed into a special dish and allowed to grow in the laboratory.  Cells are later taken from the growing sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample.  The stained sample is photographed to provide a karyotype, which shows the arrangement of the chromosomes.  Certain abnormalities can be identified through the number or arrangement of the chromosomes.   This test is particularly valuable for identifying higher-than-average-risk myeloma in patients with fewer than two copies of each chromosome (hypodiploidy) and in those with deletion of chromosome 13 during cell division.
  • Fluorescence In Situ Hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. This is important for understanding a variety of chromosomal abnormalities and other genetic mutations. Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing.  It is useful for defining high-risk myeloma in patients with certain chromosomal translocations (which occur when chromosomes inappropriately exchange sequences of genetic material during cell division) and/or in those who have a deletion of the short arm of chromosome 17.
Role of FISH in Myeloma Risk Stratification
XIIth International Myeloma Workshop in Washington, DC
Rafael Fonseca, M.D.
Mayo Clinic
Scottsdale, Arizona
Genetic Changes in Myeloma: Prognostic Implications
XIIth International Myeloma Workshop in Washington, DC
Herve Avet-Loiseau, M.D.
Institute de Biologie
Nantes, France

International Myeloma Working Group (IMWG) Molecular Classification of Multiple Myeloma: Spotlight Review
Published in Leukemia (2009), 1–12