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Essential thrombocythemia
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Definition
Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms, which cause the bone marrow to make too many platelets, white blood cells and/or red blood cells. In Essential thrombocythemia, the body produces too many platelets. The signs and symptoms vary from person to person, but most people with Essential thrombocythemia do not have any symptoms when the platelet cell count first increases.
Signs and symptoms that develop as the disease progresses include: increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets); enlargement of the spleen (splenomegaly); and bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs and difficulty breathing. Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet). Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic genetic change in any of several genes, such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL, THPO, or TET2 gene. The reason why some people acquire genetic changes that cause the disease is unknown.
For more information, see the Hematopoietic database at https://seer.cancer.gov/seertools/hemelymph
Signs and symptoms that develop as the disease progresses include: increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets); enlargement of the spleen (splenomegaly); and bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs and difficulty breathing. Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet). Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic genetic change in any of several genes, such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL, THPO, or TET2 gene. The reason why some people acquire genetic changes that cause the disease is unknown.
For more information, see the Hematopoietic database at https://seer.cancer.gov/seertools/hemelymph
Resource
Alternate Names
None
Abstractor Notes
None
Histology
9962/3: Essential thrombocythemia
Primary Sites
C421: Bone marrow
