WEN-CHIEN CHOUHSIN-AN HOUChen, Chien-YuanChien-YuanChenJIH-LUH TANGMING YAOWOEI TSAYBOR-SHENG KOSHANG-JU WUSHANG-YI HUANGSZU-CHUN HSUYAO-CHANG CHENHuang Y.-N.Chang Y.-.Lee F.-Y.Liu M.-C.Liu C.-W.Tseng M.-H.Huang C.-F.HWEI-FANG TIEN2021-01-042021-01-0420100006-4971https://www.scopus.com/inward/record.uri?eid=2-s2.0-77950968519&doi=10.1182%2fblood-2009-11-253070&partnerID=40&md5=70b4f59525a131e298c47698a3b09ccehttps://scholars.lib.ntu.edu.tw/handle/123456789/537478Mutations of nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase gene (IDH1) have been identified in patients with gliomas. Recent genome-wide screening also revealed IDH1 mutation as a recurrent event in acute myeloid leukemia (AML), but its clinical implications in AML are largely unknown. We analyzed 493 adult Chinese AML patients in Taiwan and found 27 patients (5.5%) harboring this mutation. IDH1 mutation was strongly associated with normal karyotype (8.4%, P = .002), isolated monosomy 8 (P = .043), NPM1 mutation (P < .001), and French-American-British M1 subtype (P < .001), but inversely associated with French-American-British M4 subtype (P = .030) and expression of HLA-DR, CD13, and CD14 (P = .002, .003, and .038, respectively). There was no impact of this mutation on patient survival. Sequential analysis of IDH1 mutation was performed in 130 patients during follow-ups. None of the 112 patients without IDH1 mutation at diagnosis acquired this mutation at relapse. In all 18 IDH1-mutated patients studied, the mutation disappeared in complete remission; the same mutation re-appeared in all 11 samples obtained at relapse. We conclude that IDH1 is associated with distinct clinical and biologic characteristics and seems to be very stable during disease evolution. ? 2010 by The American Society of Hematology.[SDGs]SDG3CD14 antigen; HLA DR antigen; isocitrate dehydrogenase; microsomal aminopeptidase; nucleophosmin; acute granulocytic leukemia; adult; aged; article; disease association; disease course; female; follow up; gene mutation; human; karyotype; major clinical study; male; monosomy; priority journal; protein expression; relapse; remission; survival rate; Taiwanjournal article10.1182/blood-2009-11-253070200978812-s2.0-77950968519