Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation
Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation
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具有 MLL3 种系突变的中国家系中急性髓系白血病和结直肠癌的异常 DNA 甲基化
DOI：
10.1007/s13277-016-5130-y
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发表时间：
2016-07
期刊：
影响因子：
--
通讯作者：
Jieping Chen
中科院分区：
文献类型：
--
作者：
Jieping Chen
与遗传畸变不同，表观遗传改变不会改变脱氧核糖核酸（DNA）编码序列，并且可以逆转。识别特定的表观遗传改变，如异常DNA甲基化，可以更好地了解癌症并改善当前的治疗。在一个中国大肠癌和急性髓细胞白血病家系中，我们检测了病例的全基因组DNA甲基化水平，并探讨了甲基化在发病机制和进展中的作用。4例均携带MLL 3种系突变的患者的DNA甲基化状态与正常对照组不同，高甲基化更为普遍。此外，更多的CpG位点在急性期AML患者比在缓解期AML患者的高甲基化。59个高甲基化或低甲基化基因被确定为所有四种情况下共同的。全基因组DNA甲基化分析表明，急性髓细胞白血病和结直肠癌患者与对照组的差异甲基化位点位于启动子区（CpG岛）和基因体区（陆架/海岸区）。超甲基化在癌症病例中更为普遍。该研究支持DNA甲基化水平在AML进展中发生变化的建议。
Unlike genetic aberrations, epigenetic alterations do not modify the deoxyribonucleic acid (DNA) coding sequence and can be reversed pharmacologically. Identifying a particular epigenetic alteration such as abnormal DNA methylation may provide better understanding of cancers and improve current therapy. In a Chinese pedigree with colorectal carcinoma and acute myeloid leukemia, we examined the genome-wide DNA methylation level of cases and explored the role of methylation in pathogenesis and progression. DNA methylation status in the four cases, which all harbor a MLL3 germline mutation, differed from that of the normal control, and hypermethylation was more prevalent. Also, more CpG sites were hypermethylated in the acute-phase AML patient than in the AML patient in remission. Fifty-nine hyper- or hypomethylated genes were identified as common to all four cases. Genome-wide DNA methylation analysis demonstrated that differentially methylated sites among acute myeloid leukemia and colorectal carcinoma cases and the control were in both promoters (CpG island) and gene body regions (shelf/shore areas). Hypermethylation was more prevalent in cancer cases. The study supports the suggestion that the level of DNA methylation changes in AML progression.
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影响因子：
12.3
作者：
Lou S;Lee HM;Qin H;Li JW;Gao Z;Liu X;Chan LL;Kl Lam V;So WY;Wang Y;Lok S;Wang J;Ma RC;Tsui SK;Chan JC;Chan TF;Yip KY
通讯作者：
Yip KY
影响因子：
3.3
作者：
Burmeister DW;Smith EH;Cristel RT;McKay SD;Shi H;Arthur GL;Davis JW;Taylor KH
通讯作者：
Taylor KH
DNA甲基转移酶3B基因多态性与中国汉族人群急性髓系白血病易感性的关系
影响因子：
3.7
作者：
Zheng Q;Zeng TT;Chen J;Liu H;Zhang H;Su J
通讯作者：
Su J
影响因子：
2.3
作者：
Huhn, Stefanie;Bevier, Melanie;Foersti, Asta
通讯作者：
Foersti, Asta
影响因子：
2
作者：
M. Gomes;K. Borges;D. Moreno;Rosane Gomes Queiroz;H. Machado;C. Carlotti;C. Scrideli;L. Tone
通讯作者：
M. Gomes;K. Borges;D. Moreno;Rosane Gomes Queiroz;H. Machado;C. Carlotti;C. Scrideli;L. Tone