Haematologica
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Haematologica, Vol 92, Issue 8, 1123-1126 doi:10.3324/haematol.11296
Copyright © 2007 by Ferrata Storti Foundation
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Acute Myeloid Leukemia

Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients

Fernando P.G. Silva, Alexandra Lind, Geeske Brouwer-Mandema, Peter J.M. Valk, Micheline Giphart-Gassler

From the Department of Toxicogenetics and Department of Hematology, Leiden University Medical Center, Leiden (FPGS, AL, GB-M and MG-P), The Netherlands and Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands (PJMV)

Correspondence: Micheline Giphart-Gassler, Department of Toxicogenetics, Leiden University Medical Center, PO box 9600, Postzone S4-P, 2300 RC Leiden, The Netherlands. E-mail: M.Giphart-Gassler{at}lumc.nl

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.

Key words: acute myeloid leukemia, trisomy 13, RUNX1, FLT3, AML-M0.




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