Single cell analysis revealed a coexistence of NOTCH1 and TP53 mutations within the same cancer cells in chronic lymphocytic leukaemia patients.

The clinical course in chronic lymphocytic leukaemia (CLL)patients is diverse, reflecting the heterogeneous biologicalbackground of this disease (Guiu0001eze u0026 Wu, 2015). Among reporteddefects, mutations in NOTCH1 and TP53 genes represent potentCLL progression drivers and contribute to diseasechemo-refractoriness (Fabbri et al, 2011; Malcikova et al,2015). Although parallel occurrence of NOTCH1 mutations andTP53 defects has been noted in CLL patients (Weissmann et al,2013; Stilgenbauer et al, 2014), the clonal composition ofthese coexisting aberrations has not been yet studied. Toclarify this phenomenon, we examined CLL patients withconcurrently detected hotspot NOTCH1 and TP53 mutations usingsingle cell analysis.