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Multiple myeloma is a type of blood cancer that affects plasma cells in the bone marrow. To diagnose multiple myeloma, doctors perform a bone marrow biopsy and aspiration to retrieve samples. The samples are then analyzed using various techniques like fluorescence in situ hybridization and cytogenetics to examine the genes in the myeloma cells and determine if they indicate high-risk or standard multiple myeloma based on genetic abnormalities present. Certain genetic mutations like translocation of chromosomes 4 and 14 or deletion of chromosome 17p are known to be signs of more aggressive, high-risk multiple myeloma.
Multiple myeloma is a type of blood cancer that affects plasma cells in the bone marrow. To diagnose multiple myeloma, doctors perform a bone marrow biopsy and aspiration to retrieve samples. The samples are then analyzed using various techniques like fluorescence in situ hybridization and cytogenetics to examine the genes in the myeloma cells and determine if they indicate high-risk or standard multiple myeloma based on genetic abnormalities present. Certain genetic mutations like translocation of chromosomes 4 and 14 or deletion of chromosome 17p are known to be signs of more aggressive, high-risk multiple myeloma.
Multiple myeloma is a type of blood cancer that affects plasma cells in the bone marrow. To diagnose multiple myeloma, doctors perform a bone marrow biopsy and aspiration to retrieve samples. The samples are then analyzed using various techniques like fluorescence in situ hybridization and cytogenetics to examine the genes in the myeloma cells and determine if they indicate high-risk or standard multiple myeloma based on genetic abnormalities present. Certain genetic mutations like translocation of chromosomes 4 and 14 or deletion of chromosome 17p are known to be signs of more aggressive, high-risk multiple myeloma.
- 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
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