von Goessel H, Jacobs U, Semper S, Krumbholz M, Langer T, Keller T, Schrauder A, van der Velden V H J, van Dongen J J M, Harbott J, Panzer-Grümayer E R, Schrappe M, Rascher W, Metzler M
Department of Pediatrics, University of Erlangen, Erlangen, Germany.
Leuk Res. 2009 Aug;33(8):1082-8. doi: 10.1016/j.leukres.2008.11.001. Epub 2008 Dec 10.
Fusion between ETV6 and RUNX1 defines the largest genetic subgroup in childhood ALL. The genomic fusion site, unique to individual patients and specific for the malignant clone, represents an ideal molecular marker for quantification of minimal residual disease. Sequencing of DNA breakpoints has been difficult due to the extended size of the respective breakpoint cluster regions. We therefore evaluated a specially designed multiplex long-range PCR assay in 65 diagnostic bone marrow samples for its suitability in routine use. Resulting fusion sites and breakpoints derived from previous studies were subject to cluster analysis to identify potential sequence motifs involved in translocation initiation.
ETV6与RUNX1之间的融合定义了儿童急性淋巴细胞白血病中最大的基因亚组。基因组融合位点是个体患者所特有的，且对恶性克隆具有特异性，它是用于定量微小残留病的理想分子标志物。由于各个断点簇区域的大小较长，DNA断点的测序一直很困难。因此，我们在65份诊断性骨髓样本中评估了一种专门设计的多重长程PCR检测方法在常规应用中的适用性。对先前研究得出的融合位点和断点进行聚类分析，以识别参与易位起始的潜在序列基序。
