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First report of IDH1 muta5ons in myeloid malignancies: detected by sequencing an AML genome , preferen5ally clustering with intermediate risk AMLs Muta5ons first discovered in gliomas and secondary glioblastomas AML  (16/188 mutated cases,  8%) R132C 8/16 (50%) R132H 7/16 (44%) R132S 1/188 IDH2 R172 0/188 Gliomas and secondary glioblastomas  (about 80% mutated) R132C 7/161 (4%) R132H 142/161 (88%) R132S 4/161 R172 0/188 No indipendent prognos5c value with respect to overall survival in mul5variate analysis Mardis E et al, NEJM 2009; 361:1058-66 Yan H et al. NEJM 2009; 360:765-9
NADP+-dependent isocitrate dehydrogenase genes, IDH1 and IDH2 IDH1 (Chr 2q33.3) IDH2 (Chr 15q26.19)  COINVOLTI NEL CICLO DI KREBS
Page 1: Le nuove mutazioni oltre JA
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 and 16: ID DG JAK2V617F IDH LNK 1 2 PMF AML
Page 17: Dr.ssa ElisabGa Antonioli Dr.

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