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LNK Mutations in JAK2 Mutation–Negative Erythrocytosis 8 pts with: Erythrocytosis low erythropoie5n levels absence of JAK2, MPL, EPOR muta5ons 2 mutated pts:  622G→T: nonsense muta5on resul5ng in the subs5tu5on of  a stop codon for glutamic acid (E208X), with trunca5on of PH and SH2 domain. 644C→T: missense muta5on resul5ng in the subs5tu5on of valine for alanine A215V), absent in lymphocytes. Conserva5ve aminoacid change. Also found in JAK2V617F nega5ve BP‐PMF. LNK muta;ons are part of the “missing link” in the pathogenesis of JAK2 muta;on–nega;ve “idiopathic” erythrocytosis or polycythemia vera. Lasho TL et al, N Engl J Med. 2010 Sep 16;363(12):1189‐90
Dr.ssa ElisabGa Antonioli Dr. Niccolò Bartalucci Dr.ssa Flavia Biamonte Dr.ssa Costanza Bogani Dr.ssa Paola Guglielmelli Dr.ssa Tiziana Fanelli Dr.ssa Elisa Malevol0 Dr.ssa Serena Mar0nelli Dr. Alessandro Pancrazzi Dr.ssa Chiara Paoli Dr.ssa Ambra Spolverini Dr. Lorenzo Tozzi Thanks to: Prof. Alessandro Vannucchi
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 and 14: Oh ST et al, Blood. 2010
Page 15: ID DG JAK2V617F IDH LNK 1 2 PMF AML

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