Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

Philip S. Rosenberg; Blanche P. Alter; Daniel C. Link; Steven Stein; Elin Rodger; Audrey A. Bolyard; Andrew A. Aprikyan; Mary A. Bonilla; Yigal Dror; George Kannourakis; Peter E. Newburger; Laurence A. Boxer; David C. Dale

doi:10.1111/j.1365-2141.2007.06897.x

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

Philip S. Rosenberg, Blanche P. Alter, Daniel C. Link, Steven Stein, Elin Rodger, Audrey A. Bolyard, Andrew A. Aprikyan, Mary A. Bonilla, Yigal Dror, George Kannourakis, Peter E. Newburger, Laurence A. Boxer, David C. Dale

Research output: Contribution to journal › Article › peer-review

70 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	210-213
Number of pages	4
Journal	British Journal of Haematology
Volume	140
Issue number	2
DOIs	https://doi.org/10.1111/j.1365-2141.2007.06897.x
State	Published - Jan 2008
Externally published	Yes

Keywords

Acute myeloid leukaemia
Granulocyte colony-stimulating factor
Myelodysplastic syndromes
Neutrophil elastase ELA2
Severe congenital neutropenia

ASJC Scopus subject areas

Hematology

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Rosenberg, P. S., Alter, B. P., Link, D. C., Stein, S., Rodger, E., Bolyard, A. A., Aprikyan, A. A., Bonilla, M. A., Dror, Y., Kannourakis, G., Newburger, P. E., Boxer, L. A., & Dale, D. C. (2008). Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. British Journal of Haematology, 140(2), 210-213. https://doi.org/10.1111/j.1365-2141.2007.06897.x

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abstract = "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.",

keywords = "Acute myeloid leukaemia, Granulocyte colony-stimulating factor, Myelodysplastic syndromes, Neutrophil elastase ELA2, Severe congenital neutropenia",

author = "Rosenberg, {Philip S.} and Alter, {Blanche P.} and Link, {Daniel C.} and Steven Stein and Elin Rodger and Bolyard, {Audrey A.} and Aprikyan, {Andrew A.} and Bonilla, {Mary A.} and Yigal Dror and George Kannourakis and Newburger, {Peter E.} and Boxer, {Laurence A.} and Dale, {David C.}",

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doi = "10.1111/j.1365-2141.2007.06897.x",

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AU - Link, Daniel C.

AU - Stein, Steven

AU - Rodger, Elin

AU - Bolyard, Audrey A.

AU - Aprikyan, Andrew A.

AU - Bonilla, Mary A.

AU - Dror, Yigal

AU - Kannourakis, George

AU - Newburger, Peter E.

AU - Boxer, Laurence A.

AU - Dale, David C.

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AB - 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.

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KW - Granulocyte colony-stimulating factor

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KW - Neutrophil elastase ELA2

KW - Severe congenital neutropenia

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

Abstract

Keywords

ASJC Scopus subject areas

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