DNMT3A MUTATION

dnmt3a突变发生在多种髓系恶性肿瘤中。这些突变与急性髓系白血病（AML）的不良预后有关，特别是在NPM1和FLT3-ITD突变的情况下，这两种突变常常同时发生。早期结果表明，具有dnmt3a突变的AML患者对达西他滨的反应可能比野生型强。T细胞急性淋巴母细胞白血病和骨髓增生异常综合征患者的生存率较低，但需要更大的队列来验证这一发现。dnmt3a突变被认为是白血病前病变，在有克隆造血但没有明显恶性肿瘤的老年人中发现。
DNMT3A mutations occur in a variety of myeloid malignancies. These mutations are associated with adverse prognosis in acute myeloid leukemia (AML), particularly in the context of NPM1 and FLT3-ITD mutations, which often co-occur. Early results indicate AML patients with DNMT3A mutations may respond better to decitabine than those with wild-type. Shorter survival has been indicated in patients with T-cell acute lymphoblastic leukemia and myelodysplastic syndrome, however, larger cohorts are required to verify this finding. DNMT3A mutations have been suggested as a pre-leukemic lesion and found in older individuals with clonal hematopoiesis but no overt malignancy.