Rosenberg Philip S, Alter Blanche P, Link Daniel C, Stein Steven, Rodger Elin, Bolyard Audrey A, Aprikyan Andrew A, Bonilla Mary A, Dror Yigal, Kannourakis George, Newburger Peter E, Boxer Laurence A, Dale David C
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Br J Haematol. 2008 Jan;140(2):210-3. doi: 10.1111/j.1365-2141.2007.06897.x. Epub 2007 Nov 20.
Severe congenital neutropenia (SCN) is a heterogeneous bone marrow failure syndrome predisposing to myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML). We studied 82 North American and Australian SCN patients enrolled in the Severe Chronic Neutropenia International Registry who were on long-term treatment with granulocyte colony-stimulating factor and for whom the neutrophil elastase (ELA2) gene was sequenced. There was no significant difference in the risk of MDS/AML in patients with mutant versus wild-type ELA2: the respective cumulative incidences at 15 years were 36% and 25% (P = 0.96). Patients with either mutant or wild-type ELA2 should be followed closely for leukaemic transformation.
严重先天性中性粒细胞减少症（SCN）是一种异质性骨髓衰竭综合征，易发展为骨髓增生异常综合征和急性髓系白血病（MDS/AML）。我们研究了82名北美和澳大利亚的SCN患者，这些患者参加了严重慢性中性粒细胞减少症国际注册研究，正在接受粒细胞集落刺激因子的长期治疗，并且对其中性粒细胞弹性蛋白酶（ELA2）基因进行了测序。ELA2突变型与野生型患者发生MDS/AML的风险没有显著差异：15年时各自的累积发病率分别为36%和25%（P = 0.96）。ELA2突变型或野生型患者均应密切随访白血病转化情况。
