Multiple myeloma

Multiple myeloma is a type of cancer that originates in the bone marrow, specifically in plasma cells, a type of white blood cell specialized in the production of antibodies. It accounts for 10% of hematological cancers.

In multiple myeloma, cancerous cells accumulate and displace healthy cells. Additionally, aberrant plasma cells, instead of producing useful antibodies, produce abnormal proteins (M protein) that can lead to complications. 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, there are certain factors that may increase the risk of developing the condition:

  • Advanced age and sex. The risk significantly increases with age, particularly developing from the age of 65. Additionally, it is more common in men than in women.
  • Ethnic background. The incidence of the disease is higher in individuals of African descent.
  • Family history of monoclonal gammopathy of uncertain significance. This is a relatively benign disease that, like multiple myeloma, is characterized by an increase in M protein.

Symptoms

The symptoms of multiple myeloma stem from the uncontrolled proliferation of a clone of plasma cells (antibody-producing cells) in the bone marrow. While some patients may not present any symptoms, the most common ones are as follows:

  • Bone problems such as pain, more commonly in the back, hips, and skull, weakness, and even fractures.
  • Low blood cell counts, especially red blood cells (anemia), leukopenia, and/or thrombocytopenia.
  • Increased calcium levels in the blood that may manifest as excessive thirst (polydipsia), polyuria, kidney problems, constipation, loss of appetite, and/or abdominal pain, among others.
  • Affecting the nervous system, which may manifest as back pain, numbness, muscle weakness, confusion, or dizziness.
  • Kidney damage 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 those affected by multiple myeloma to get sick more frequently and to respond poorly to treatments.

Prevention

For certain types of cancer, risk factors are known that explain the majority of cases. For others, there are early detection techniques that allow for treatments before they become invasive cancers. However, in multiple myeloma, few cases are related to avoidable factors, making its prevention very difficult.

Multiple myeloma starts as a monoclonal gammopathy of uncertain significance or a bone plasmacytoma, but the method to prevent its progression to multiple myeloma is currently unknown.

Number of observed variants

13.5 million variants

Number of risk loci

9 loci

Genes analyzed

CBX7 CDCA7L CHPF2 DNMT3A ELL2 MYNN PSORS1C2 TNFRSF13B ULK4

Bibliography

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