Abstract：
The spectrum of childhood leukemia predisposition syndromes has grown significantly over last decades. These predisposition syndromes mainly involve CEBPA, ETV6, GATA2, IKZF1, PAX5, RUNX1, SAMD9/SAMD9L, TP53, RAS-MAPK pathway, DNA mismatch repair system genes, genes associated with Fanconi anemia, and trisomy 21. The clinico-biological features leading to the suspicion of a leukemia predisposition are highly heterogeneous and require varied exploration strategies. The study of the initial characteristics of childhood leukemias includes high-throughput sequencing techniques, which have increased the frequency of situations where a leukemia predisposing syndrome is suspected. Identification of a leukemia predisposition syndrome can have a major impact on the choice of chemotherapy, the indication for hematopoietic stem cell transplantation, and screening for associated malformations and pathologies. The diagnosis of a predisposition syndrome can also lead to the exploration of family members and genetic counseling. Diagnosis and management should be based on dedicated and multidisciplinary care networks.
摘要：
在过去的几十年中，儿童白血病易感性综合征的范围显着增长。这些易感综合征主要涉及CEBPA,ETV6,GATA2,IKZF1,PAX5,RUNX1,SAMD9/SAMD9L,TP53,RAS-MAPK通路,DNA错配修复系统基因,与范可尼贫血相关的基因，和21三体。导致怀疑白血病易感性的临床生物学特征是高度异质性的，需要多种探索策略。儿童白血病初始特征的研究包括高通量测序技术，这增加了怀疑白血病易感综合征的频率。白血病易感性综合征的鉴定可以对化疗的选择产生重大影响，造血干细胞移植的适应症,并筛查相关的畸形和病理。易感性综合征的诊断也可以导致家庭成员的探索和遗传咨询。诊断和管理应基于专用和多学科护理网络。
