Down综合征相关造血系统疾病的研究进展

患有Down综合征(DS)的婴儿和儿童常表现为一过性骨髓增殖异常(TAM)和患急性白血病的风险增加.大多数TAM能自行缓解,但早期病死率高,且约20%患儿在4年内进展为急性巨核细胞白血病.小剂量的阿糖胞苷化疗可能使中、高危组患儿受益.DS儿童急性巨核细胞白血病发病率高,对阿糖胞苷、柔红霉素敏感,预后显著好于非DS儿童....

Advances in Down syndrome related hematopoietic system diseases

Newborns and children with Down syndrome ( DS) often prensent with transient abnormal myelopoiesis ( TAM) and have an increased risk of acute leukaemia. Most children are able to spontaneously resolve, but early mortality is high, and recurrence of acute megakaryoblastic leukemia (AMKL) occur in about 20% infants within 4 years. Sympotomatic babies with TAM may benefit from low-dose cytarabine. Children with DS are more likely to develop AMKL. DS-AMKL is sensitive to cytarabine and anthracyclines, thus having a superior outcome when compared with non-DS AMKL Age, sex, white blood cell count and risk group are similar between DS-ALL and non-DS-ALL, but DS-ALL has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome. Risk-adjusted intensive chemotherapy protocols demonstrate a good survival.