Abstract：
Juvenile myelomonocytic leukemia (JMML) and myelodysplastic syndromes (MDS) of children are rare and aggressive diseases. They both have the particularity of being very frequently associated with an underlying predisposition syndrome, which must be systematically investigated by meticulous clinical exam completed by molecular analysis on fibroblasts, in order to guarantee the best therapeutic management. New generation sequencing techniques have made it possible to better define the landscape of constitutional predisposing pathologies, to understand the clonal evolution that leads to the development of hematological malignancies and to identify new prognostic markers. In these two diseases, the only curative treatment is allogeneic hematopoietic stem cell transplantation, for which the appropriate timeframe, the type of donor and the conditioning must be decided in consultation with the expert teams in each entity.
摘要：
幼年型粒单核细胞白血病（JMML）和儿童骨髓增生异常综合征（MDS）是罕见且侵袭性的疾病。它们都具有特殊性，经常与潜在的易感性综合症有关，必须通过对成纤维细胞的分子分析完成细致的临床检查进行系统研究，以保证最佳的治疗管理。新一代测序技术使更好地定义宪法易感病理的景观成为可能，了解导致血液系统恶性肿瘤发展的克隆进化，并确定新的预后标志物。在这两种疾病中，唯一的治疗方法是异基因造血干细胞移植，在适当的时间范围内，捐助者的类型和条件必须与每个实体的专家组协商决定。
