FLT3 ITD

FLT3-ITD（内部串联重复）经常发生在血液恶性肿瘤患者中，如慢性髓细胞白血病、急性髓细胞白血病（AML）和骨髓增生异常综合征，但特别是在细胞遗传学正常的AML（CN-AML）中。这些复制事件破坏了flt3的并列膜结构域，可能是内部flt3序列或其他不相关序列复制的结果，导致帧内复制事件。这些重复的长度可以有很大的差异，这可能会有预后的结果，但这还没有最终确定。总的来说，FLT3-ITD突变与预后不良有关。与CN-AML相关的其他基因，如NPM1，可能调节与该变异体相关的预后。
FLT3-ITD (internal tandem duplications) frequently occur in patients with hematologic malignancies such as chronic myelogenous leukemia, acute myeloid leukemia (AML) and myelodysplastic syndrome, but particularly in cytogenetically normal AML (CN-AML). These duplication events disrupt the juxtamembrane domain of FLT3 and can be the result of a duplication of internal FLT3 sequence or other unrelated sequence resulting in an in-frame duplication event. The length of these duplications can vary widely which may have prognostic consequences, but this has not been conclusively determined. FLT3-ITD mutations overall have generally been associated with poor prognosis. Additional genes associated with CN-AML such as NPM1 may modulate the prognosis associated with this variant.