Integrated molecular analyses of T cell acute lymphoblastic leukemia using SNP and methyration arrays

采用SNP阵列对55例新诊断的T-ALL和14例采用JACLS方案治疗的T-NHL患者进行分子分析。在4q、6q、11p、9p和17p13位点发现了改变。67例患者中有5例（7.5%）出现LEF1改变。LEF1的改变与年龄有关，但与性别、白细胞计数（WBC）或无事件生存无关。55例T-ALL患者中有4例（7.2%）发现IL7R突变，14例T-NHL患者中无IL7R突变（0%）。IL7R基因突变与T-ALL儿童无事件生存无关。值得注意的是，所有4例IL7R突变患者都存活，没有复发。IL7R突变与性别或白细胞无关。对16例T-ALL患者进行全外显子组测序，其中包括6例复发患者。每名患者平均有19个基因发生改变。NOTCH1和fbxw7基因突变分别在56%和32%的患者中发现。新发现的突变将在未来进一步研究。

Molecular analysis was performed on 55 newly diagnosed T-ALL and 14 T-NHL patients treated by JACLS protocol using SNP array. Alterations were identified in 4q,6q,11p,9p,and 17p13 locus. Among them LEF1 alteration was found in 5(7.5%) of 67 patients. LEF1 alteration was associated with a younger age, but not with sex, white blood cell count(WBC) or event-free survival..IL7R mutations were found in 4 (7.2%) of 55 T-ALL and none (0%) of 14 T-NHL patients. IL7R gene mutation was not associated with event-free survival in T-ALL children. Notably, all 4 patients with IL7R mutations have been alive without relapse. IL7R mutation was not associated with sex or WBC.Whole exome sequencing was performed in 16 T-ALL patients, including 6 relapsed patients. Mean alteration was found in 19 genes per one patient. Mutations of NOTCH1 and FBXW7genes were found in 56 % and 32% patients, respectively. Novel mutations identified will be further examined in future.