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Novel muta+ons in the inhibitory adaptor protein LNK (SH2B3) drive JAK‐ STAT signaling in pa+ents with myeloprolifera+ve neoplasms LNK exon 2 muta0ons (Pleckstrin‐homology domain): 603_607delGCGCT and 613C→G: dele5on of five base pairs and a missense                             muta5on leading to a premature stop codon Found in 1 pt JAK2WT PMF 622G→C: missense muta5on yielding a subs5tu5on of glutamine for glutamic     acid (E208Q) Found in 1 pt JAK2WT ET Oh ST et al, Blood. 2010 Aug 12;116(6):988‐92 6% of 33 JAK2 WT MPN
Oh ST et al, Blood. 2010 Aug 12;116(6):988‐92
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: Clinical correlates and progn
Page 15 and 16: ID DG JAK2V617F IDH LNK 1 2 PMF AML
Page 17: Dr.ssa ElisabGa Antonioli Dr.

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