New insights to the MLL recombinome of acute leukemias
New insights to the MLL recombinome of acute leukemias
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DOI：
10.1038/leu.2009.33
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发表时间：
2009-08-01
期刊：
影响因子：
11.4
通讯作者：
Marschalek, R.
中科院分区：
文献类型：
--
作者：
Meyer, C.;Kowarz, E.;Marschalek, R.
人类MLL基因的染色体重排与高危儿童、成人和治疗相关急性白血病相关。这些患者需要进行识别、适当治疗，并通过定量PCR技术监测最小残留疾病。从个体急性白血病患者中分离基因组DNA以鉴定和表征涉及人MLL基因的染色体重排。从384名儿童和376名成人白血病患者中获得的760份ML重排活检样本在分子水平上进行了表征。将列出临床亚型（急性淋巴细胞白血病、急性髓性白血病、儿童和成人）和融合易位伴侣基因（TPG）（包括新型MLL融合基因）的MLL断点分布。结合我们的研究数据和最近发表的数据，揭示了104种不同的MLL重排，其中64种TPG现在在分子水平上进行了表征。9个TPG似乎主要参与MLL的遗传重组：AFF 1/AF 4、MLLT 3/AF 9、MLLT 1/ENL、MLLT 10/AF 10、MLLT 4/AF 6、ELL、EPS 15/AF 1 P、MLLT 6/AF 17和SEPT 6。此外，我们描述了第一次的遗传网络的互惠MLL基因融合来自复杂的重排。Leukemia（2009）23，1490-1499; doi：10.1038/leu.2009.33; 2009年3月5日在线发表
Chromosomal rearrangements of the human MLL gene are associated with high-risk pediatric, adult and therapy-associated acute leukemias. These patients need to be identified, treated appropriately and minimal residual disease was monitored by quantitative PCR techniques. Genomic DNA was isolated from individual acute leukemia patients to identify and characterize chromosomal rearrangements involving the human MLL gene. A total of 760 MLL-rearranged biopsy samples obtained from 384 pediatric and 376 adult leukemia patients were characterized at the molecular level. The distribution of MLL breakpoints for clinical subtypes (acute lymphoblastic leukemia, acute myeloid leukemia, pediatric and adult) and fused translocation partner genes (TPGs) will be presented, including novel MLL fusion genes. Combined data of our study and recently published data revealed 104 different MLL rearrangements of which 64 TPGs are now characterized on the molecular level. Nine TPGs seem to be predominantly involved in genetic recombinations of MLL: AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, MLLT4/AF6, ELL, EPS15/AF1P, MLLT6/AF17 and SEPT6, respectively. Moreover, we describe for the first time the genetic network of reciprocal MLL gene fusions deriving from complex rearrangements. Leukemia (2009) 23, 1490-1499; doi:10.1038/leu.2009.33; published online 5 March 2009