CEBPA N-TERMINAL FRAME SHIFT

导致过早终止密码子的CEBPA N端帧移位突变与细胞遗传学正常的急性髓系白血病（CN-AML）有关。CEBPA突变与良好的预后相关；然而，NPM1和FLT3突变也应在CN-AML患者中进行评估，因为同时发生的突变可能具有预后意义。已证明氨基酸1-120内的N端帧移位突变会破坏全长42kDa亚型的表达，同时维持30kDa亚型的表达（从AUG翻译为全长蛋白亚型氨基酸M120）。这种30kDa亚型表现出显性负活性。
CEBPA N-terminal frame shift mutations that result in a premature stop codon are associated with cytogenetically normal acute myeloid leukemia (CN-AML). CEBPA mutations are associated with a favorable prognosis; however, NPM1 and FLT3 mutations should also be assessed in CN-AML patients as concurrent mutations may have prognostic implications. N-terminal frame shift mutations within amino acids 1-120 have been shown to disrupt expression of the full-length 42kDa isoform while maintaining expression of a 30kDa isoform (translated from the AUG at full-length protein isoform amino acid M120). This 30kDa isoform exhibits dominant negative activity.