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常见的RAS突变型唐氏综合征急性淋巴细胞白血病病例缺乏JAK2突变。

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

作者信息

Nikolaev Sergey I, Garieri Marco, Santoni Federico, Falconnet Emilie, Ribaux Pascale, Guipponi Michel, Murray Aoife, Groet Jürgen, Giarin Emanuela, Basso Giuseppe, Nizetic Dean, Antonarakis Stylianos E

机构信息

1] Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland [2].

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland.

出版信息

Nat Commun. 2014 Aug 8;5:4654. doi: 10.1038/ncomms5654.

Abstract

Children with Down syndrome (DS) and acute lymphoblastic leukaemia (ALL) have poorer survival and more relapses than non-DS children with ALL, highlighting an urgent need for deeper mechanistic understanding of DS-ALL. Here, using full-exome or cancer genes-targeted sequencing of 42 ALL samples from 39 DS patients, we uncover driver mutations in RAS, (KRAS and NRAS) recurring to a similar extent (15/42) as JAK2 (12/42) mutations or P2RY8-CRLF2 fusions (14/42). RAS mutations are almost completely mutually exclusive with JAK2 mutations (P=0.016), driving a combined total of two-thirds of analysed cases. Clonal architecture analysis reveals that both RAS and JAK2 drove sub-clonal expansions primarily initiated by CRLF2 rearrangements, and/or mutations in chromatin remodellers and lymphocyte differentiation factors. Remarkably, in 2/3 relapsed cases, there is a switch from a primary JAK2- or PTPN11-mutated sub-clone to a RAS-mutated sub-clone in relapse. These results provide important new insights informing the patient stratification strategies for targeted therapeutic approaches for DS-ALL.

摘要

患有唐氏综合征(DS)和急性淋巴细胞白血病(ALL)的儿童比不患DS的ALL儿童生存率更低,复发率更高,这凸显了迫切需要对DS-ALL进行更深入的机制理解。在这里,我们对39名DS患者的42个ALL样本进行全外显子组或癌症基因靶向测序,发现RAS(KRAS和NRAS)中的驱动突变发生率与JAK2突变(12/42)或P2RY8-CRLF2融合(14/42)相似(15/42)。RAS突变几乎与JAK2突变完全互斥(P = 0.016),共驱动了三分之二的分析病例。克隆结构分析表明,RAS和JAK2都驱动了主要由CRLF2重排和/或染色质重塑因子及淋巴细胞分化因子突变引发的亚克隆扩增。值得注意的是,在2/3的复发病例中,存在从原发性JAK2或PTPN11突变亚克隆向复发时RAS突变亚克隆的转变。这些结果为DS-ALL靶向治疗方法的患者分层策略提供了重要的新见解。

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