Article
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Nature communications - 8 Aug 2014
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
Abstract excerpt
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...
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