Of 52 AML-M0 patients studied, 16 presented a RUNX1 mutation (30.8 %) and 8 carried a trisomy 13 (15 %). We found a strong correlation between trisomy 13 and RUNX1 mutations, i.e, 7 out of 8 cases with trisomy 13 carried a mutation in RUNX1 (87.5 %, p<0.00056). Trisomy 13 patients with a RUNX1 mutation showed a 4-fold higher expression of FLT3 mRNA compared to controls, and in a selected number of cases, a higher cell fraction expressing FLT3 and an increase in the number of FLT3 receptors at the cell surface. In conclusion, our results show that trisomy 13 is correlated to RUNX1 mutation and increased FLT3 expression in AML-M0.

AML-M0, Acute myeloid leukemia, FLT3, RUNX1, Trisomy 13
dx.doi.org/10.3324/haematol.11296, hdl.handle.net/1765/36049
Erasmus MC: University Medical Center Rotterdam

Silva, F.P.G, Lind, A, Brouwer-Mandema, G, Valk, P.J.M, & Giphart-Gassler, M. (2007). Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. Haematologica, 92(8), 1123–1126. doi:10.3324/haematol.11296