Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

被引：65

作者：

Rosenberg, Philip S. ^{[1
]}

Alter, Blanche P. ^{[2
]}

Link, Daniel C. ^{[3
]}

Stein, Steven ^{[4
]}

Rodger, Elin ^{[4
]}

Bolyard, Audrey A. ^{[4
]}

Aprikyan, Andrew A. ^{[4
]}

Bonilla, Mary A. ^{[5
]}

Dror, Yigal ^{[6
]}

Kannourakis, George ^{[7
]}

Newburger, Peter E. ^{[8
]}

Boxer, Laurence A. ^{[9
]}

Dale, David C. ^{[4
]}

机构：

[1] NCI, Biostat Branch, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv,NIH, Rockville, MD 20852 USA

[2] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv,NIH, Rockville, MD 20852 USA

[3] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA

[4] Univ Washington, Dept Med, Seattle, WA USA

[5] St Josephs Childrens Hosp, Dept Pediat Hematol Oncol, Paterson, NJ USA

[6] Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[7] Univ Ballart, Ballart Canc Res Ctr, Wendouree, Vic, Australia

[8] Univ Massachusetts, Sch Med, Dept Pediat, Worcester, MA USA

[9] Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2008年 / 140卷 / 02期

关键词：

severe congenital neutropenia; neutrophil elastase ELA2; acute myeloid leukaemia; myelodysplastic syndromes; granulocyte colony-stimulating factor;

D O I：

10.1111/j.1365-2141.2007.06897.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：210 / 213

页数：4

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