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In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produced in the bone marrow. Myelo refers to the bone marrow , proliferative describes the rapid growth of blood cells and neoplasm describes that growth as abnormal and uncontrolled.
Signs and symptoms include fever, night sweats, bone pain, fatigue, and abdominal pain. Increased infections, bleeding and an enlarged spleen (splenomegaly) are also hallmarks of the disease. Patients with myelofibrosis have an increased risk of acute meyloid leukemia and frank bone marrow failure.
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R).
A somatic (non-hereditary) mutation (V617F) in the JAK2 gene, also present in other myeloproliferative disorders, is found in 95% of cases. [21] Symptoms include headaches and vertigo, and signs on physical examination include an abnormally enlarged spleen and/or liver. Studies suggest that mean arterial pressure (MAP) only increases when ...
In adults, blood cells are formed in the bone marrow, by a process that is known as haematopoiesis. In CMML, there are increased numbers of monocytes and immature blood cells ( blasts ) in the peripheral blood and bone marrow, as well as abnormal looking cells ( dysplasia ) in at least one type of blood cell.
[3] [8] JAK2 is a member of the Janus kinase family. [ 3 ] [ 8 ] In 2013, two groups detected calreticulin mutations in a majority of JAK2 -negative/ MPL -negative patients with essential thrombocythemia and primary myelofibrosis , which makes CALR mutations the second most common in myeloproliferative neoplasms .
[1] [2] Because these tissues are all intimately connected through both the circulatory system and the immune system, a disease affecting one will often affect the others as well, making aplasia, myeloproliferation and lymphoproliferation (and thus the leukemias and the lymphomas) closely related and often overlapping problems.
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