Why do you get polycythemia vera? Will it have a short lifetime?

Why do you get polycythemia vera? Will the survival period be short? …The first reaction of many true red patients when they hear a doctor’s diagnosis is usually the case. In particular, in the past, the health of the sick population will be more doubtful about the accuracy of the examination, the doctor’s diagnosis level, the hospital’s diagnosis process, and so on. The body is always healthy, why is it suddenly diagnosed as “polycythemia vera”? Studies have shown that 95% of “true red” patients have JAK2 gene acquired functional mutations, including JAK2V617F or JAK2 gene exon 12 mutations (K539L, N542-543del, E543-544del are the most common, mainly heterozygous mutations). JAK2 gene exon 12 mutations are found in 50%-80% of JAK2V617F mutation-negative PV patients. Compared with JAK2V617F positive PV patients, patients with mutations in exon 12 showed higher hemoglobin levels and low platelets and white blood cells. There was no significant difference in the risk of thrombosis, conversion to leukemia and secondary bone marrow fibrosis, and the incidence of death. In addition, it also includes: DNMT3a, ASXL1, TET2, IDH1/2 and other gene mutations. These mutations not only lead to abnormal proliferation of the erythroid system, but also the hyperplasia of the granulocyte and megakaryocytic system, and may constitute the molecular mechanism of PV progression to myelofibrosis and acute leukemia. This means that most of the “true red” patients have genetic mutations located in hematopoietic stem cells, which is the cause of the “culprit” of the disease. If you have any questions about this article or the disease, please feel free to follow us on WeChat Soyisou to learn more: xejb120

Explaining why JAK2 gene mutation causes “true red”? Shi Shurong explained

Polycythemia vera (PV), or “true red” for short, is a bone marrow proliferative tumor (MPN) that originates from hematopoietic stem cells. The main manifestation is a myeloproliferative tumor characterized by abnormally increased red blood cells and independent of the normal erythropoiesis regulation mechanism. Director Shi Shurong’s micro-signal xueyeke999JAK2 gene can be seen in almost all patients with true red. It is an important diagnosis. JAK2 (Janus kinase 2) is a member of the 4 members of the JAK family (TYK2, JAK1, JAK2, JAK3) and is a non-receptor Peptide kinase (PTK), located on the short arm of chromosome 9 (9p24), plays an important role in the regulation of hematopoiesis. JAK2 gene point mutation occurs in exon 14 of JAK2 gene 1849, that is, the base of codon 617 of JAK2 gene coding sequence is G-T transposed, so that the original guanine G is replaced by thymine T, The valine encoded by it becomes phenylalanine. JAK2V617F is a somatic function acquired mutation that occurs at the level of hematopoietic stem/progenitor cells. When JAK2V617F mutation occurs, even in the absence of EPO, it can cause the continuous activation and enhancement of JAK2 kinase and downstream signal transduction pathways, resulting in Inhibition of malignant cell proliferation and apoptosis eventually causes the occurrence of PV. In addition, JAK2V617F mutation can also induce activation and signaling abnormalities of thrombopoietin receptor (TPOR) and granulocyte colony stimulating factor receptor (G-CSFR), resulting in abnormal proliferation of megakaryocyte cell lines and granulocyte progenitor cells, ET and The incidence of PMF may also be related to this. JAK2 gene mutations are ubiquitous in PV patients, and JAK2V617F mutation-negative PV patients often have other types of mutations related to the JAK2 gene, especially JAK2 exon 12 mutations. In addition, it also includes: DNMT3a, ASXL1, TET2, IDH1/2 and other gene mutations. These mutations not only lead to abnormal proliferation of the erythroid system, but also abnormal proliferation of the granulocyte and megakaryocytic system, and may constitute the molecular mechanism of PV progression to myelofibrosis and acute leukemia. For more erythrocytosis disease knowledge or patient help, you can pay attention to WeChat public number: zkxy120