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Profiling of somatic mutations in acute myeloid leukemia
with FLT3-ITD at diagnosis and relapse
by Manoj Garg, Yasunobu Nagata, Deepika Kanojia, Anand Mayakonda, Kenichi
Yoshida, Sreya Haridas Keloth, Zhi Jiang Zang, Yusuke Okuno, Yuichi Shiraishi,
Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Ling-Wen Ding, Tamara Alpermann,
Qiao-Yang Sun, De-Chen Lin, Wenwen Chien, Vikas Madan, Li-Zhen Liu, Kar-Tong
Tan, Abhishek Sampath, Subhashree Venkatesan, Koiti Inokuchi, Satoshi Wakita,
Hiroki Yamaguchi, Wee Joo Chng, Shirley-Kow Yin Kham, Allen Eng-Juh Yeoh,
Masashi Sanada, Joanna Schiller, Karl-Anton Kreuzer, Steven M. Kornblau, Hagop
M. Kantarjian, Torsten Haferlach, Michael Lill, Ming-Chung Kuo, Lee-Yung Shih, IgorWolfgang Blau, Olga Blau, Henry Yang, Seishi Ogawa, and H. Phillip Koeffler
Blood
Volume 126(22):2491-2501
November 26, 2015
©2015 by American Society of Hematology
Somatic mutations identified by WES and TDS of FLT3-ITD AML. (A) Number of mutations
discovered for 50 individuals at DX, CR, and REL (light gray), 25 individuals at DX and CR (dark
gray), and 5 individuals at CR and REL (black).
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
Distribution of somatic mutations in 80 patients with FLT3-ITD AML. Each column displays
French-American-British classification, sex, and ethnicity of an individual sample; each row
denotes a specific gene.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
Distribution of mutational nucleotide classes between DX and REL paired samples.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
Clonal evolution from primary to REL in UPN001 and UPN002 and pattern of evolution observed
in 13 DX and REL pairs.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
MLL3 gene is mutated in FLT3-ITD AML both at DX and REL, and silencing of MLL3 in FLT3-ITD
cells increased their growth in both liquid culture and clonogenic assay.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
MLL3 acts as a recessive gene mutated in FLT3-ITD subgroup.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
FAT1 and FAT4 somatic mutations in FLT3-ITD AML at DX and REL. (A) Schematic of FAT1 and
FAT4 genes with the locations of alterations.
Manoj Garg et al. Blood 2015;126:2491-2501
©2015 by American Society of Hematology
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