Silva Fernando P G, Lind Alexandra, Brouwer-Mandema Geeske, Valk Peter J M, Giphart-Gassler Micheline
Department of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands.
Haematologica. 2007 Aug;92(8):1123-6. doi: 10.3324/haematol.11296.
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.
在研究的52例急性髓系白血病M0型（AML-M0）患者中，16例存在RUNX1突变（30.8%），8例携带13号染色体三体（15%）。我们发现13号染色体三体与RUNX1突变之间存在强相关性，即8例13号染色体三体病例中有7例携带RUNX1突变（87.5%，p<0.00056）。与对照组相比，携带RUNX1突变的13号染色体三体患者的FLT3 mRNA表达高4倍，并且在部分病例中，表达FLT3的细胞比例更高，细胞表面FLT3受体数量增加。总之，我们的结果表明，13号染色体三体与AML-M0中的RUNX1突变及FLT3表达增加相关。
