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

应用SNP芯片对55例初诊T-ALL和14例T-NHL患者进行基因分型。在4 q、6 q、11 p、9 p和17 p13位点上发现了变异。其中5例（7.5%）患者LEF 1基因突变。LEF 1改变与年轻相关，但与性别、白色血细胞计数（WBC）或无事件生存率无关。在55例T-ALL患者中发现4例（7.2%）IL 7 R突变，而在14例T-NHL患者中未发现IL 7 R突变。IL 7 R基因突变与T-ALL患儿的无事件生存率无关。值得注意的是，所有4例IL 7 R突变患者均存活，无复发。对16例T-ALL患者（包括6例复发患者）进行了全外显子序列测定。平均每例患者有19个基因发生改变。NOTCH 1和FBXW 7基因突变率分别为56%和32%。发现的新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.