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Multiple Myeloma, Genetic Testing

Multiple myeloma is a cancer of plasma cells, a type of white blood cell found in the bone marrow. It can lead to bone pain, anemia, and kidney problems. Treatment includes chemotherapy, stem cell transplantation, and targeted therapies. The assessment of the Polygenic Risk Score for multiple myeloma is based on examining 9 gene polymorphisms.

Genetic testing for multiple myeloma is included along with 19 other diseases in the Genetic Screening for Neoplasms and Precancerous Malformations, Polygenic Risk Score.

Causes and non-genetic risk factors

In multiple myeloma, cancer cells accumulate and crowd out healthy cells. In addition, the aberrant plasma cells produce abnormal proteins (M protein) that can cause complications instead of producing functional antibodies. The cells become cancerous due to the presence of alterations in their genetic material, but the causes of multiple myeloma are not entirely clear. However, certain factors may increase the risk of developing the condition:

  • Advanced age and gender. The risk increases markedly with age, especially after age 65. It is also more common in men than in women
  • Ethnic origin. The incidence of the disease is higher in people of African origin
  • Family history of monoclonal gammopathy of uncertain significance. This is a relatively benign disease which, like multiple myeloma, is characterized by an increase in M protein

The symptomatology of multiple myeloma results from the uncontrolled proliferation of a clone of plasma (antibody-producing) cells in the bone marrow. Although some patients may not present any symptoms, the most common are the following:

  • Bone problems include pain, most commonly in the back, hips, and skull, weakness, and even fractures
  • Low blood cell counts, red blood cells (anemia), white blood cells (leukopenia), and/or platelets (thrombocytopenia)
  • Increased levels of calcium in the blood may manifest with excessive thirst (polydipsia), polyuria, kidney problems, constipation, loss of appetite, and/or abdominal pain, among other symptoms
  • Nervous system involvement may manifest as back pain, numbness, muscle weakness, confusion, or dizziness
  • Kidney damage is due to the accumulation of M protein, which may be associated with weakness, itching, or swelling
  • Recurrent infections. The decrease in immune system cells (leukocytes) causes multiple myeloma patients to become ill more frequently and respond less well to treatment

For certain types of cancer, risk factors are known to explain most cases. For others, there are early detection techniques that allow treatment before they become invasive cancers. However, in multiple myeloma, few cases are related to preventable factors, making prevention very difficult. Multiple myeloma starts as a monoclonal gammopathy of uncertain significance or a bone plasmacytoma, but it is not known how to prevent its progression to multiple myeloma at the moment.

Additional information
Results Time4 - 5 Weeks
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