AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations by Jih-Luh.

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AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations by Jih-Luh Tang, Hsin-An Hou, Chien-Yuan Chen, Chieh-Yu Liu, Wen-Chien Chou, Mei-Hsuan Tseng, Chi-Fei Huang, Fen-Yu Lee, Ming-Chih Liu, Ming Yao, Shang-Yi Huang, Bor-Sheng Ko, Szu-Chun Hsu, Shang-Ju Wu, Woei Tsay, Yao-Chang Chen, Liang-In Lin, and Hwei-Fang Tien Blood Volume 114(26):5352-5361 December 17, 2009 ©2009 by American Society of Hematology

Patterns and locations of the 68 RUNX1 mutations, including 63 distinct and 5 insignificant mutations. Patterns and locations of the 68 RUNX1 mutations, including 63 distinct and 5 insignificant mutations. Four kinds of mutations were demonstrated: missense mutations, nonsense mutations, frameshift mutations, and in-frame mutations. Three kinds of frameshift mutations are noted: truncated mutations with defective RHD, truncated mutations with intact RHD, and elongated mutations with intact RHD. The numbering of nucleotide of transcript is according to the mRNA sequence from GenBank42 accession number D43968 (AML1b); on the other hand, the numbering of amino acid of protein is according to the amino acid sequence from GenBank accession number Q01196. G42R, D317N, Q370R, V425G, and M439L are insignificant mutations. ▴ and | represent the sites of mutation; X, the site of the stop codon; Ω, the site of insertion; and (hyphenated line), the site of deletion. RD indicates repression domain; E, exon; I, intron; nt, nucleotide; UTR, untranslated region; and a.a., amino acid. Jih-Luh Tang et al. Blood 2009;114:5352-5361 ©2009 by American Society of Hematology

Kaplan-Meier survival curves according to RUNX1 mutation status. Kaplan-Meier survival curves according to RUNX1 mutation status. (A-B) A total of 330 AML patients receiving standard chemotherapy. (C-D) Those patients with normal karyotype. Data are shown for OS (A,C) and DFS (B,D). Tick marks represent patients whose data were censored at the last time they were known to be alive (A) or in CR (B) or at the time of HSCT. Jih-Luh Tang et al. Blood 2009;114:5352-5361 ©2009 by American Society of Hematology