JAK2 positive test means that there has occurred some mutation in the JAK2 (Janus kinase 2) gene which is responsible for the formation of the JAK2 enzyme. JAK2 positive signifies the hematologic condition especially Polycythemia vera, Myelofibrosis, Leukemias, and Myelodysplastic syndrome. It is not found positive in normal people. As per the studies, the JAK2 mutated gene is found in almost all the patients of polycythemia vera (98-100%), idiopathic myelofibrosis (40-50%), and Essential thrombocythemia (50-70%). This means it is most particular to polycythemia vera. In this article, we will be learning all about the JAK2 gene, causes, and significance of point mutation in it. JAK2 gene is also known ad JAK-2, JAK_HUMAN, Janus kinase 2, JTK10, and Tyrosine-protein kinase JAK2.
Mutation in the JAK2 gene particularly results in three main diseases i.e. Polycythemia vera, myeloproliferative neoplasm, primary myelofibrosis, and essential thrombocythemia. Essential thrombocythemia results in overproduction of peripheral blood platelet count along with the growth of megakaryocytes in the bone marrow. All the three mentioned diseases tend to show its signs and symptoms from 60-70 years of age. Sometimes the patient can be asymptomatic along with the raised blood count. As time passes and the disease progresses there is seen a spike in platelet count or hematocrit count eventually resulting in symptoms like blurred vision, headaches, and plethora on the body.
When there occurs mutation in the JAK2 gene, it results in a continuously activated JAK2 protein that results in accelerated production of platelets, erythrocytes, and granulocytes. If we go with the evidence JAK2 gene mutation is present in all the cases of Polycythemia vera but only in half or less of the primary myelofibrosis or essential thrombocythemia. However, still it is not clear why the same genetic mutation causes one disease is one person while the other in second. One more important and peculiar point about this gene mutation is that it is acquired and not inherited from the family.
Each gene in our body codes for the formation of a protein, which further is accountable for the production of a particular enzyme. These enzymes help in carrying out all the major and minor reactions and functions in the body like digestion, growth of cells, working of the immune system, etc. During the division and growth of our body's cells, there can occur certain abnormal mutations in the genes which are present in the cells. This mutation is passed on to all the cells which are produced from the division of this cell and this leads to disturbed functions of the body. JAK2 gene is a nonreceptor tyrosine kinase that belongs to the Janus family.
Mutated JAK2 gene along with other mutated genes like PCM1 and TEL result in diseases like leukemia. JAK2 gene which codes for protein and then JAK2 enzyme is formed that is responsible for the growth of the cells and their production. This JAK2 enzyme mainly works in our bone marrow for the production of new cells from the hematopoietic stem cells. When there occurs a mutation in the JAK2 gene, it leads to the continuous production of megakaryocytes that lead to their overproduction. Megakaryocytes stimulates the release of collagen by other certain cells which forms scar tissue when released in high quantity. This scar tissue starts building up in the bone marrow. This is a suggestive sign of Myelofibrosis.
Mutation in the JAK2 gene is the definitive sign of Polycythemia vera where this abnormal mutation is the cause of the overproduction of blood cells.
JAK2 Mutation Test is Done Mainly to
Diagnose the Polycythemia vera along with the serum erythropoietin level
When a young person is suffering from repetitive episodes of thrombosis in abdominal or cerebral arteries. This is suggestive of Myeloproliferative disorder.
When the platelet count is raised without any evident cause.
Polycythemia Vera can be effectively differentiated from other causes of erythrocytosis with the help of the JAK2 gene mutation test. Also, one point should be kept in mind that the JAK2 mutation test is not confirmatory for Myeloproliferative Disorder or other cancers hence along with it other diagnostic tests should also be performed. Till the only treatment for it is certain drugs (ruxolitinib) which slows down the action of the JAK2 enzyme hence eventually cutting the rate of production of cells and subsequently the scar tissue formation is also slowed. However, no exact drug of choice is yet found for it that can act in every case of the mutation.
However, the mutation is not found in all the cases and the cause is not known for it but as JAK2 gene mutation acts as a very important biomarker especially in the case of Myeloproliferative disorder and Polycythemia vera. A blood sample is taken from bone marrow and sometimes the results come out to be negative, however, the other diagnostic tools should be used to confirm the disease as even in the absence of this gene mutation disease might be still present in the body.
Some questions like how single gene mutation results in three different diseases is still unclear and researches are going on. However, the discovery of the JAK2 gene mutation test has brought a revolution in the medical world by making Polycythemia vera, Essential thrombocythemia, and Primary myelofibrosis from another kind of myeloproliferative neoplasms.
There are several trials and researchers are going to make a choice of a drug specifically for JAK2 gene mutation. However the main problem that is coming in the way is that if we manufacture a medicine that inhibits the JAK2 gene mutation then what about the normal JAK2 gene and its function. The normal will also get hampered which can result in serious damages and danger to the body. Inhibition of JAK2 gene mutation can be bad in that case. However, an alternative system of medicine i.e.
Ayurveda can help in this aspect as this system is based on the individuality of the patient and altered doshas which can be corrected by giving natural medicines. No specific research has been done in this aspect however the therapeutic properties of certain herbs and minerals can help in giving desired results.
DR. Vikram Chauhan, MD - AYURVEDA is an expert Ayurvedic practitioner based in Chandigarh, India and doing his practice in Mohali, India. He is spreading the knowledge of Ayurveda Ancient healing treatment, not only in India but also abroad. He is the CEO and Founder of Planet Ayurveda Products, Pla
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