Division of Pediatric Hematology-Oncology, University of Michigan, Ann Arbor, Michigan 48109, USA.
Curr Opin Hematol. 2012 Jan;19(1):44-51. doi: 10.1097/MOH.0b013e32834da96e.
Hematopoietic stem cell transplantation (HCT) is the only curative option for patients with severe congenital neutropenia (SCN). Transplant success is dependent on identifying at-risk patients and proceeding to transplant before the development of severe infections or malignant transformation. This review focuses on recent advancements in risk stratification of SCN patients, indications for HCT, and review of published transplant studies.
Patients with poor neutrophil response despite high doses of granulocyte colony-stimulating factor (G-CSF) are at greatest risk for malignant transformation. Other studies demonstrate elevated risk with mutations in the G-CSF receptor gene and a specific mutation in the ELANE gene. These patients are at high-risk of sepsis or leukemia development and should proceed to transplant with best available donor. As recent published studies demonstrate, HCT is highly successful in patients without leukemia and, therefore, may be considered in selected low-risk patients given the life-long risk of malignancy and infection.
The decision whether to proceed to HCT in healthy patients maintained on G-CSF is difficult. As transplant-related mortality continues to decrease, the role of transplant in SCN is likely to expand to more patients.
造血干细胞移植（HCT）是严重先天性中性粒细胞减少症（SCN）患者的唯一治愈选择。移植的成功取决于识别高危患者，并在严重感染或恶性转化发生之前进行移植。这篇综述重点介绍了 SCN 患者风险分层、HCT 适应证的最新进展，并回顾了已发表的移植研究。
尽管使用了高剂量的粒细胞集落刺激因子（G-CSF），但中性粒细胞反应仍不佳的患者发生恶性转化的风险最大。其他研究表明，G-CSF 受体基因突变和 ELANE 基因突变与风险升高有关。这些患者发生败血症或白血病发展的风险较高，应尽快采用最佳供体进行移植。正如最近发表的研究表明，HCT 在无白血病患者中非常成功，因此，鉴于终生存在恶性肿瘤和感染的风险，在某些低危患者中也可以考虑进行移植。
对于接受 G-CSF 维持治疗的健康患者，是否进行 HCT 的决策很困难。随着移植相关死亡率的持续下降，移植在 SCN 中的作用可能会扩展到更多的患者。
