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Microbial Evolution and Co-Adaptation:

The JAK2V617F mutation often undergoes a transition from heterozygosity to homozygosity due to occurrence of mitotic recombination resulting in copy-neutral loss of heterozygosity along a variable size region on the short arm of chromosome 9 (9pLOH).5,8 The JAK2V617F mutation arises in a multipotent hematopoietic progenitor, is present in all myeloid lineages, and can be also detected in lymphoid cells, mainly B and NK cells and more rarely and later in disease in T cells. It is absent in nonhematopoietic cells although it has been found in endothelial cells of the spleen and of splanchnic veins of patients with MF and/or splanchnic thrombosis as the Budd-Chiari syndrome.9 The variant allele frequency (VAF) in granulocytes is highly variable, with a continuum between the threshold of detection (around 1%) to 100%. The VAF is usually low in ET (around 25%), is higher in PV (frequently over 50%), and is close to 100% in post-PV or post-ET MF. In PMF, the VAF is variable, but frequently high