Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A

Der Cherng Liang, Hsi Che Liu, Chao Ping Yang, Tang Her Jaing, Iou Jih Hung, Ting Chi Yeh, Shih Hsiang Chen, Jen Yin Hou, Ying Jung Huang, Yu Shu Shih, Yu Hui Huang, Tung Huei Lin, Lee Yung Shih*

*此作品的通信作者

研究成果: 期刊稿件文章同行評審

78 引文 斯高帕斯(Scopus)

摘要

Gene mutations involving epigenetic regulators recently have been described in adult acute myeloid leukemia (AML). Similar studies are limited in children. We analyzed gene mutations and cooperation in pediatric AML with special reference on mutated epigenetic regulators. Nineteen gene mutations, including 8 class I genes, 4 class II genes, WT1 and TP53 (class III), and 5 epigenetic regulator genes (class IV), were analyzed in 206 children with de novo AML. Mutational analysis was performed with polymerase chain reaction-based assay followed by direct sequencing. One hundred seventeen of 206 patients (56.8%) had at least onemutation: 51%class I, 13%class II, 6.8% class III, and 5.6% class IV. FLT3-internal tandem duplication was most frequent, and 29% of patients had more than one gene mutation. Two patients carried ASXL1 mutations, both with t(8;21), 2 had DNMT3A mutations, 2 had IDH1 mutations, 1 had IDH2 mutation, and 3 had TET2 mutations. Both patients with IDH1 mutations had AML-M0 subtype and MLL-partial tandem duplication. Cooperating mutations with mutated epigenetic regulators were observed in 8 of 10 patients. We conclude that mutated epigenetic regulators were much less than those in adult AML butwith frequent cooperating mutations. ASXL1, TET2, andI DH1 mutations were associated with specific genetic subtypes.

原文英語
頁(從 - 到)2988-2995
頁數8
期刊Blood
121
發行號15
DOIs
出版狀態已出版 - 11 04 2013

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