Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
Summary 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 w...
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| Veröffentlicht in: | British journal of haematology 2008-01, Vol.140 (2), p.210-213 |
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| creator | 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. |
| description | Summary
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. |
| doi_str_mv | 10.1111/j.1365-2141.2007.06897.x |
| format | Article |
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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.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/j.1365-2141.2007.06897.x</identifier><identifier>PMID: 18028488</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>acute myeloid leukaemia ; Australia - epidemiology ; Biological and medical sciences ; Chronic Disease ; Disease Progression ; Dose-Response Relationship, Drug ; Epidemiologic Methods ; Genetic Predisposition to Disease ; Granulocyte Colony-Stimulating Factor - therapeutic use ; granulocyte colony‐stimulating factor ; Hematologic and hematopoietic diseases ; Humans ; Leukemia, Myeloid, Acute - epidemiology ; Leukemia, Myeloid, Acute - genetics ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Leukocyte Elastase - genetics ; Medical sciences ; Mutation ; myelodysplastic syndromes ; Myelodysplastic Syndromes - epidemiology ; Myelodysplastic Syndromes - genetics ; Neutropenia - congenital ; Neutropenia - drug therapy ; Neutropenia - epidemiology ; Neutropenia - genetics ; neutrophil elastase ELA2 ; Precancerous Conditions - congenital ; Precancerous Conditions - drug therapy ; Precancerous Conditions - epidemiology ; Precancerous Conditions - genetics ; severe congenital neutropenia ; United States - epidemiology</subject><ispartof>British journal of haematology, 2008-01, Vol.140 (2), p.210-213</ispartof><rights>2008 INIST-CNRS</rights><rights>2007 Blackwell Publishing Ltd 2007</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5027-d8c8d5ed695ddb17005d3e48faa8bb857fd8f0e1ee6d76f871555b6723b688523</citedby><cites>FETCH-LOGICAL-c5027-d8c8d5ed695ddb17005d3e48faa8bb857fd8f0e1ee6d76f871555b6723b688523</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2141.2007.06897.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2141.2007.06897.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,780,784,885,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19977485$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18028488$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rosenberg, Philip S.</creatorcontrib><creatorcontrib>Alter, Blanche P.</creatorcontrib><creatorcontrib>Link, Daniel C.</creatorcontrib><creatorcontrib>Stein, Steven</creatorcontrib><creatorcontrib>Rodger, Elin</creatorcontrib><creatorcontrib>Bolyard, Audrey A.</creatorcontrib><creatorcontrib>Aprikyan, Andrew A.</creatorcontrib><creatorcontrib>Bonilla, Mary A.</creatorcontrib><creatorcontrib>Dror, Yigal</creatorcontrib><creatorcontrib>Kannourakis, George</creatorcontrib><creatorcontrib>Newburger, Peter E.</creatorcontrib><creatorcontrib>Boxer, Laurence A.</creatorcontrib><creatorcontrib>Dale, David C.</creatorcontrib><title>Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Summary
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.</description><subject>acute myeloid leukaemia</subject><subject>Australia - epidemiology</subject><subject>Biological and medical sciences</subject><subject>Chronic Disease</subject><subject>Disease Progression</subject><subject>Dose-Response Relationship, Drug</subject><subject>Epidemiologic Methods</subject><subject>Genetic Predisposition to Disease</subject><subject>Granulocyte Colony-Stimulating Factor - therapeutic use</subject><subject>granulocyte colony‐stimulating factor</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Leukemia, Myeloid, Acute - epidemiology</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Leukocyte Elastase - genetics</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>myelodysplastic syndromes</subject><subject>Myelodysplastic Syndromes - epidemiology</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Neutropenia - congenital</subject><subject>Neutropenia - drug therapy</subject><subject>Neutropenia - epidemiology</subject><subject>Neutropenia - genetics</subject><subject>neutrophil elastase ELA2</subject><subject>Precancerous Conditions - congenital</subject><subject>Precancerous Conditions - drug therapy</subject><subject>Precancerous Conditions - epidemiology</subject><subject>Precancerous Conditions - genetics</subject><subject>severe congenital neutropenia</subject><subject>United States - epidemiology</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtO6zAQhi0Egh7gFZA3LJNjJ3E8XYAECA4gBBtYW5N4Ai6pU9kpl7cnOa247PBmbP0Xjz7GuBSpHM7fWSrzUiWZLGSaCaFTUcJUp28bbPIpbLKJGKREigJ22J8YZ0LIXCi5zXYkiAwKgAm7v6VlH7rFk2s5tRh7jMTnyx571_nI0VseXHzmXcNbWj4jzR1y53mkFwrE684_knc9ttyvioYX7rGtBttI--u5yx4uzu_PLpObu39XZyc3Sa1EphMLNVhFtpwqayuphVA2pwIaRKgqULqx0AiSRKXVZQNaKqWqUmd5VQKoLN9lx6vexbKak63J9wFbswhujuHddOjMT8W7J_PYvZhcFrnIxgJYFdShizFQ85mVwoykzcyMQM0I1IykzX_S5m2IHnz_-yu4RjsYDtcGjDW2TUBfu_jlm061LkANvqOV79W19P7rBczp9eV4yz8AEPyciA</recordid><startdate>200801</startdate><enddate>200801</enddate><creator>Rosenberg, Philip S.</creator><creator>Alter, Blanche P.</creator><creator>Link, Daniel C.</creator><creator>Stein, Steven</creator><creator>Rodger, Elin</creator><creator>Bolyard, Audrey A.</creator><creator>Aprikyan, Andrew A.</creator><creator>Bonilla, Mary A.</creator><creator>Dror, Yigal</creator><creator>Kannourakis, George</creator><creator>Newburger, Peter E.</creator><creator>Boxer, Laurence A.</creator><creator>Dale, David C.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>200801</creationdate><title>Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia</title><author>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.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5027-d8c8d5ed695ddb17005d3e48faa8bb857fd8f0e1ee6d76f871555b6723b688523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>acute myeloid leukaemia</topic><topic>Australia - epidemiology</topic><topic>Biological and medical sciences</topic><topic>Chronic Disease</topic><topic>Disease Progression</topic><topic>Dose-Response Relationship, Drug</topic><topic>Epidemiologic Methods</topic><topic>Genetic Predisposition to Disease</topic><topic>Granulocyte Colony-Stimulating Factor - therapeutic use</topic><topic>granulocyte colony‐stimulating factor</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Leukemia, Myeloid, Acute - epidemiology</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Leukocyte Elastase - genetics</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>myelodysplastic syndromes</topic><topic>Myelodysplastic Syndromes - epidemiology</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Neutropenia - congenital</topic><topic>Neutropenia - drug therapy</topic><topic>Neutropenia - epidemiology</topic><topic>Neutropenia - genetics</topic><topic>neutrophil elastase ELA2</topic><topic>Precancerous Conditions - congenital</topic><topic>Precancerous Conditions - drug therapy</topic><topic>Precancerous Conditions - epidemiology</topic><topic>Precancerous Conditions - genetics</topic><topic>severe congenital neutropenia</topic><topic>United States - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rosenberg, Philip S.</creatorcontrib><creatorcontrib>Alter, Blanche P.</creatorcontrib><creatorcontrib>Link, Daniel C.</creatorcontrib><creatorcontrib>Stein, Steven</creatorcontrib><creatorcontrib>Rodger, Elin</creatorcontrib><creatorcontrib>Bolyard, Audrey A.</creatorcontrib><creatorcontrib>Aprikyan, Andrew A.</creatorcontrib><creatorcontrib>Bonilla, Mary A.</creatorcontrib><creatorcontrib>Dror, Yigal</creatorcontrib><creatorcontrib>Kannourakis, George</creatorcontrib><creatorcontrib>Newburger, Peter E.</creatorcontrib><creatorcontrib>Boxer, Laurence A.</creatorcontrib><creatorcontrib>Dale, David C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rosenberg, Philip S.</au><au>Alter, Blanche P.</au><au>Link, Daniel C.</au><au>Stein, Steven</au><au>Rodger, Elin</au><au>Bolyard, Audrey A.</au><au>Aprikyan, Andrew A.</au><au>Bonilla, Mary A.</au><au>Dror, Yigal</au><au>Kannourakis, George</au><au>Newburger, Peter E.</au><au>Boxer, Laurence A.</au><au>Dale, David C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2008-01</date><risdate>2008</risdate><volume>140</volume><issue>2</issue><spage>210</spage><epage>213</epage><pages>210-213</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Summary
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.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>18028488</pmid><doi>10.1111/j.1365-2141.2007.06897.x</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | acute myeloid leukaemia Australia - epidemiology Biological and medical sciences Chronic Disease Disease Progression Dose-Response Relationship, Drug Epidemiologic Methods Genetic Predisposition to Disease Granulocyte Colony-Stimulating Factor - therapeutic use granulocyte colony‐stimulating factor Hematologic and hematopoietic diseases Humans Leukemia, Myeloid, Acute - epidemiology Leukemia, Myeloid, Acute - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Leukocyte Elastase - genetics Medical sciences Mutation myelodysplastic syndromes Myelodysplastic Syndromes - epidemiology Myelodysplastic Syndromes - genetics Neutropenia - congenital Neutropenia - drug therapy Neutropenia - epidemiology Neutropenia - genetics neutrophil elastase ELA2 Precancerous Conditions - congenital Precancerous Conditions - drug therapy Precancerous Conditions - epidemiology Precancerous Conditions - genetics severe congenital neutropenia United States - epidemiology |
| title | Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia |
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