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