通过连续长距离反向PCR方法分析具有复杂MLL重排的急性白血病患者。

Analyzing acute leukemia patients with complex MLL rearrangements by a sequential LDI-PCR approach.

作者信息

Binato Renata, Meyer Claus, Macedo-Silva Maria Luiza, Garcia Daniela, Figueiredo Amanda, Hofmann Julia, Vieira Tarsis Paiva, Abdelhay Eliana, Marschalek Rolf

机构信息

Stem Cell Laboratory, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil.

出版信息

Cancer Lett. 2013 Sep 28;338(2):249-54. doi: 10.1016/j.canlet.2013.03.029. Epub 2013 Apr 2.

DOI:10.1016/j.canlet.2013.03.029

PMID:23562474

Abstract

Translocations involving MLL gene are common among children with acute leukemias. Most importantly, the presence of a given MLL fusion partner dictates the outcome of patients. Patients with complex MLL rearrangements, e.g. three-way translocations could be related to a poor clinical outcome. For this purpose, we characterize 5 childhood patients with three-way translocations involving MLL gene. By LDI-PCR we identified 15 out of 17 fusion alleles and determined the localization of these breakpoints. In all cases at least one functional MLL fusion allele was present. In addition, patients displayed a remaining 3'-MLL allele that allow in principle the expression of the MLL* protein variant.

摘要

涉及MLL基因的易位在急性白血病儿童中很常见。最重要的是，特定MLL融合伴侣的存在决定了患者的预后。患有复杂MLL重排的患者，例如三方易位，可能与不良临床预后相关。为此，我们对5例涉及MLL基因三方易位的儿童患者进行了特征分析。通过长距离PCR（LDI-PCR），我们在17个融合等位基因中鉴定出15个，并确定了这些断点的定位。在所有病例中，至少存在一个功能性MLL融合等位基因。此外，患者还显示出一个剩余的3'-MLL等位基因，原则上允许MLL*蛋白变体的表达。