O'Rafferty C, Kelly J, Storey L, Ryan C, O'Marcaigh A, Smith O
Department of Haematology, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Ir J Med Sci. 2015 Dec;184(4):877-82. doi: 10.1007/s11845-014-1212-2. Epub 2014 Oct 25.
Down syndrome (DS), the most common syndromic chromosomal abnormality is associated with a unique susceptibility to develop both acute myeloid (ML) and lymphoblastic leukaemia (ALL). These leukaemias differ from the non-DS-related types of leukaemia and are thought to be distinct biological entities.
To perform a retrospective review of our experience of treating DS-related leukaemia at Our Lady's Children's Hospital.
Data were extracted from a database established in 2000 to prospectively gather data on DS-associated leukaemias and their outcomes following polychemotherapy. Kaplan-Meier survival curves were constructed.
Nineteen patients with DS-ML were treated and 19 with DS-ALL. Sixteen (84%) patients with DS-ML are alive and in complete remission with a median follow-up of 7 years. All deaths in this cohort were due to treatment-related mortality (TRM). Of the DS-ALL patients, 12 (63%) remain alive with a median follow-up of 3.6 years. TRM accounted for five of the six deaths. One death was due to leukaemic relapse.
High cure rates are seen in DS-ML using contemporary polychemotherapy protocols, however, there is significant TRM in this cohort. DS-ALL does not have the same high cure rate as non-DS-ALL (>90%) and again this is mainly due to an excess of TRM.
唐氏综合征（DS）是最常见的综合征性染色体异常疾病，与急性髓系白血病（ML）和淋巴细胞白血病（ALL）的独特易感性相关。这些白血病与非DS相关类型的白血病不同，被认为是不同的生物学实体。
回顾我们在圣母儿童医院治疗DS相关白血病的经验。
从2000年建立的数据库中提取数据，前瞻性收集DS相关白血病及其多药化疗后的结果数据。构建Kaplan-Meier生存曲线。
19例DS-ML患者和19例DS-ALL患者接受了治疗。16例（84%）DS-ML患者存活且完全缓解，中位随访7年。该队列中的所有死亡均归因于治疗相关死亡率（TRM）。在DS-ALL患者中，12例（63%）存活，中位随访3.6年。6例死亡中有5例归因于TRM。1例死亡是由于白血病复发。
使用当代多药化疗方案治疗DS-ML的治愈率较高，然而，该队列中存在显著的TRM。DS-ALL的治愈率与非DS-ALL（>90%）不同，同样这主要是由于TRM过高。
