Munoz, John Emmanuel R.

2MBIO5

Multiple Myeloma: Analytical Process

1. Defining the problem

- Myeloma is a type of cancer of the blood, specifically plasma cells found in the bone
marrow. When these healthy plasma cells change, multiple bone lesions that reduce bone
structure may appear and lowers the production of healthy plasma cells, therefore reducing
the patient’s immunity. Patients can present with an array of symptoms including anemia,
fatigue, hypercalcemia, nausea or none at all.
2. Selecting method
- For most types of cancer, a biopsy is the only sure way for the doctor to know if an area of
the body has cancer. For Patients with suspected multiple myeloma, bone marrow biopsy
and aspiration are performed.
3. Sampling
- Bone marrow has both a solid and a liquid part. A bone marrow aspiration removes a
sample of the fluid with a needle. A bone marrow biopsy is the removal of a small amount of
solid tissue using a needle.
4. Dissolving the sample
- Due to the method by which this is done (the cancer cells need time to be grown in the lab
after being retrieved), the results of these studies are often not available for two to three
weeks after a bone marrow biopsy is done.
5. Removing interferences
- Fluorescence in situ hybridization (FISH) is a cytogenic technique used for the detection and
localization of RNA sequences within tissues or cells and are performed to achieve signal
amplification of the target of interest. This technique can be used on formalin-fixed paraffin
embedded (FFPE) tissue, frozen tissues, fresh tissues, cells and circulating tumor cells.
6. Analyzing/determining the analytes
- A pathologist then analyzes the sample(s). The genes in the myeloma are examined by
cytogenetics. Cytogenetics is a type of genetic testing that is used to analyze a cell's
chromosomes. These tests determine the genetic makeup of the myeloma and whether it is
standard or high risk.
7. Calculating/evaluating the results
- Cytogenetics tests, along with FISH (discussed next), determine if there is loss of
chromosome 13 during myeloma cell division. Loss of chromosome 13 usually indicates
other genetic abnormalities are present in the myeloma cells. Certain deletions and
translocations are known to be signs of myeloma that is more aggressive (high-risk multiple
myeloma). These high-risk mutations include the following:

 Translocation (4;14), which is movement of gene segments from chromosome 4 to

14
 Deletion 17p, which is the loss of the short arm (top part) of chromosome 17, where
a major tumor suppressor gene (the p53 gene) is located
 Translocation (14;16), which is movement of gene segments from chromosomes 14
to 16