Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
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DOI：
10.1111/j.1365-2141.2007.06897.x
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发表时间：
2008-01-01
影响因子：
6.5
通讯作者：
Dale, David C.
中科院分区：
文献类型：
--
作者：
Rosenberg, Philip S.;Alter, Blanche P.;Dale, David C.
严重先天性中性粒细胞减少症(SCN)是一种易患骨髓增生异常综合征和急性髓系白血病(MDS/AML)的异质性骨髓衰竭综合征。我们研究了82名北美和澳大利亚慢性慢性粒细胞减少症患者，这些患者长期接受粒细胞集落刺激因子治疗，并对其中性粒细胞弹性蛋白酶(ELA2)基因进行了测序。突变ELA2患者与野生型ELA2患者发生MDS/AML的风险无显著差异：15年累积发生率分别为36%和25%(P=0.96)。突变或野生型ELA2的患者应密切关注白血病转化情况。
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.