We assessed lineage involvement by NUP98 translocations in myelodysplastic syndromes (MDS), acute myeloid leukaemia (AML), and T-cell acute lymphoblastic leukaemia (T-ALL). Single cell analysis by FICTION (Fluorescence Immunophenotype and Interphase Cytogenetics as a Tool for Investigation of Neoplasms) showed that, despite diverse partners, i.e. NSD1, DDX10, RAP1GDS1, and LNP1, NUP98 translocations always affected a CD34+/CD133+ hematopoietic precursor. Interestingly the abnormal clone included myelomonocytes, erythroid cells, B- and T- lymphocytes in MDS/AML and only CD7+/CD3+ cells in T-ALL. The NUP98-RAP1GDS1 affected different hematopoietic lineages in AML and T-ALL. Additional specific genomic events, were identified, namely FLT3 and CEBPA mutations in MDS/AML, and NOTCH1 mutations and MYB duplication in T-ALL.

Leukaemia, Lineage affiliation, NUP98 translocations, Single cell analysis
dx.doi.org/10.1016/j.leukres.2015.04.014, hdl.handle.net/1765/88385
Leukemia Research: clinical and laboratory studies
Erasmus MC: University Medical Center Rotterdam

Crescenzi, A, Nofrini, V, Barba, G, Matteucci, D, Di Giacomo, D, Gorello, P, … Mecucci, C. (2015). NUP98/11p15 translocations affect CD34+ cells in myeloid and T lymphoid leukemias. Leukemia Research: clinical and laboratory studies, 39(7), 769–772. doi:10.1016/j.leukres.2015.04.014