Within the first decade following the diagnosis, up to 20% of MPN (mainly PMF) patients progress to acute myeloid leukemia (AML), and although de novo JAK mutations in AML are rare, a somatic JAK2 T875N mutation (JH1 interaction site for exon 16 residues) has been detected in about 5.2% of AML patients [74,75]. The gene discussed is JAK2; the disease is acute myeloid leukemia.