SNP Shot: Genomic Insights

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML), a cancer that originates in the bone marrow, the body's blood-forming tissue. Normally, the bone marrow's hematopoietic stem cells produce: red blood cells (erythrocytes) for oxygen transport, white blood cells (leukocytes) for infection defense, and platelets (thrombocytes) for blood clotting. In APL, immature white blood cells, specifically promyelocytes, build up excessively in the bone marrow. This overgrowth reduces the production of normal white blood cells, red blood cells, and platelets, resulting in various symptoms.

Individuals with APL are particularly prone to bruising, small red spots under the skin (petechiae), nosebleeds, gum bleeding, blood in the urine (hematuria), or heavy menstrual periods. These bleeding and bruising problems are due to both a reduced platelet count (thrombocytopenia) and the release of substances from the cancerous cells that promote excessive bleeding.

A low red blood cell count (anemia) can lead to pale skin (pallor) or extreme fatigue in individuals with APL. Slower wound healing and frequent infections can also occur due to a lack of normal infection-fighting white blood cells. Additionally, the leukemic cells can spread to bones and joints, causing pain in those areas. Other common symptoms may include fever, loss of appetite, and weight loss.

While APL is most commonly diagnosed around the age of 40, it can occur at any age.

Inheritance:

APL is not an inherited condition. It develops from a translocation, a change in the body's cells, that happens after fertilization.