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A Tribute to the Life and Scientific Legacies of Joshua Lederberg

2 exon 12 mutations have been also found in MPNs and are present in the majority of JAK2V617F PV.1 They are not usually associated with ET and PMF, but JAK2 exon 12 mutation can progress to secondary MF.Several mutations have been described, most of them being in-frame small insertions and deletions. Exon 12 JAK2 mutations are all located in the linker between the Src homology 2 (SH2) and the pseudokinase domains, a region between amino acids 536 and 547, around Lys 539. The most frequent mutations being the N542-E543del (23%), E543-D544del (11%), and F537-K539delinsL and K539L (10%), respectively. The VAF in granulocytes can be low and their detection may require specific techniques