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Oh ST et al, Blood. 2010 Aug 12;116(6):988‐92
ID DG JAK2V617F IDH LNK 1 2 PMF AML PMF AML VF 29% VF 30% WT WT WT WT WT WT 658>A; G220R WT WT 644C>T;A215V 139 pts: • 61 postMPN‐AML •78 CP‐MPN 3 4 PMF AML PMF AML NA NA VF 22% VF NA NA IDH2 R140Q IDH2 R140Q WT 644C>T;A215V 685‐691_delGGCCCCG, 955_delA 685‐691_delGGCCCCG ,955_delA 8 mutated cases (13%) 9.8% mutated in BP‐MPN 5 PMF AML WT WT WT WT WT 688C>T;A223V 700G>A; D234N 88% had PMF in CP 6 PMF AML WT WT WT WT 659G>T; G220V WT 7 postPMF‐AML VF 25% WT 685G>A; G229S 8 postPV‐AML VF 80% WT 624G>A; E208E 6 missense muta5ons 1 synonymous muta5on 2 dele5ons (same case) Muta5onal “hot spot” No clear genotype‐phenotype correla5on All in PH domain or just distal to PH domain Pardanani et al. Leukemia. 2010 Oct;24(10):1713‐8. 
Page 1 and 2: Le nuove mutazioni oltre JA
Page 3 and 4: NADP+-dependent isocitrate dehydrog
Page 5 and 6:  Reduc5on of NADPH and gl
Page 7 and 8: Somatic mutations of IDH1 and IDH2
Page 9 and 10: Tefferi et al., Leukemia (2010) 24,
Page 11 and 12: Clinical correlates and progn
Page 13: Oh ST et al, Blood. 2010
Page 17: Dr.ssa ElisabGa Antonioli Dr.

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