Auewarakul Chirayu U, Leecharendkeat Amporn, Tocharoentanaphol Chintana, Promsuwicha Orathai, Sritana Narongrit, Thongnoppakhun Wanna
Haematologica. 2007 Jun;92(6):861-2. doi: 10.3324/haematol.10914.
AML1 mutations were identified in 6.3% of AML patients with chromosomal translocations involving CBF, PML-RARalpha, HOX, or ETS transcription factor (TF) gene families. Rare chromosomal abnormalities, t(16;21) and t(7;11), were also found. This study represents the first series to demonstrate the coexistence of known and novel AML1 mutations with different TF gene mutations. Although the occurrence of two TF gene mutations may appear unnecessary, the possible synergistic mechanism between different TF gene families cannot be excluded and needs to be further explored.
在6.3%的急性髓系白血病（AML）患者中发现了AML1突变，这些患者存在涉及核心结合因子（CBF）、早幼粒细胞白血病-维甲酸受体α（PML-RARα）、同源盒基因（HOX）或E26转化特异性序列（ETS）转录因子（TF）基因家族的染色体易位。还发现了罕见的染色体异常，即t(16;21)和t(7;11)。本研究是首个证明已知和新型AML1突变与不同TF基因突变共存的系列研究。虽然两个TF基因突变的出现可能看似不必要，但不同TF基因家族之间可能存在的协同机制不能排除，需要进一步探索。
