Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia
Summary Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were...
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| Veröffentlicht in: | British journal of haematology 2009-03, Vol.144 (6), p.930-932 |
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| container_title | British journal of haematology |
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| creator | Gaikwad, Amos Rye, Cassia L. Devidas, Meenakshi Heerema, Nyla A. Carroll, Andrew J. Izraeli, Shai Plon, Sharon E. Basso, Giuseppe Pession, Andrea Rabin, Karen R. |
| description | Summary
Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18·9%). Mutations were overrepresented in males (P |
| doi_str_mv | 10.1111/j.1365-2141.2008.07552.x |
| format | Article |
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Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18·9%). Mutations were overrepresented in males (P < 0·03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event‐free survival. Our results confirm the significance of JAK–STAT pathway activation in DS ALL.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/j.1365-2141.2008.07552.x</identifier><identifier>PMID: 19120350</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>acute lymphoblastic leukaemia ; Age Factors ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome aberrations ; Diploidy ; Disease-Free Survival ; Down syndrome ; Down Syndrome - complications ; Down Syndrome - genetics ; Down Syndrome - mortality ; Enzyme Activation - genetics ; Hematologic and hematopoietic diseases ; Humans ; JAK2 ; Janus Kinase 2 - genetics ; Janus Kinase 2 - metabolism ; Kaplan-Meier Estimate ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Male ; Medical genetics ; Medical sciences ; paediatric ; Point Mutation ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - enzymology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality ; Sequence Analysis, DNA ; Sex Factors</subject><ispartof>British journal of haematology, 2009-03, Vol.144 (6), p.930-932</ispartof><rights>2008 Blackwell Publishing Ltd</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5332-3c20af615c23446e273431d551aa569b2812524e03b1beabc90d0342cefccf8e3</citedby><cites>FETCH-LOGICAL-c5332-3c20af615c23446e273431d551aa569b2812524e03b1beabc90d0342cefccf8e3</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.1365-2141.2008.07552.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2141.2008.07552.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21211766$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19120350$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gaikwad, Amos</creatorcontrib><creatorcontrib>Rye, Cassia L.</creatorcontrib><creatorcontrib>Devidas, Meenakshi</creatorcontrib><creatorcontrib>Heerema, Nyla A.</creatorcontrib><creatorcontrib>Carroll, Andrew J.</creatorcontrib><creatorcontrib>Izraeli, Shai</creatorcontrib><creatorcontrib>Plon, Sharon E.</creatorcontrib><creatorcontrib>Basso, Giuseppe</creatorcontrib><creatorcontrib>Pession, Andrea</creatorcontrib><creatorcontrib>Rabin, Karen R.</creatorcontrib><title>Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Summary
Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18·9%). Mutations were overrepresented in males (P < 0·03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event‐free survival. Our results confirm the significance of JAK–STAT pathway activation in DS ALL.</description><subject>acute lymphoblastic leukaemia</subject><subject>Age Factors</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome aberrations</subject><subject>Diploidy</subject><subject>Disease-Free Survival</subject><subject>Down syndrome</subject><subject>Down Syndrome - complications</subject><subject>Down Syndrome - genetics</subject><subject>Down Syndrome - mortality</subject><subject>Enzyme Activation - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>JAK2</subject><subject>Janus Kinase 2 - genetics</subject><subject>Janus Kinase 2 - metabolism</subject><subject>Kaplan-Meier Estimate</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>paediatric</subject><subject>Point Mutation</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - enzymology</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality</subject><subject>Sequence Analysis, DNA</subject><subject>Sex Factors</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkUtv1DAURi0EokPhLyBvYJdw_cpjAVIpj1IqwQLWluO5oR4ce7CTtvPvSZjRACvwxpbu-T5d6xBCGZRsPi82JROVKjiTrOQATQm1Ury8u0dWx8F9sgKAumAgmxPyKOcNABOg2ENywlrGQShYEfs54Y3xGCxSE9bUehecNZ7amBJ6M2KmsaeXZx85HabRjC6GTF2gb-JtoHkX1ikOc9ROI1K_G7bXsfMmj85Sj9N3g4Mzj8mD3viMTw73Kfn67u2X84vi6tP7D-dnV4VVQvBCWA6mr5iyXEhZIa-FFGytFDNGVW3HG8YVlwiiYx2azrawBiG5xd7avkFxSl7te7dTN-DaYhiT8Xqb3GDSTkfj9N-T4K71t3ijec1l09ZzwfNDQYo_JsyjHly26L0JGKesq6ptq0ryf4IcpISWL43NHrQp5pywP27DQC8q9UYvxvRiTC8q9S-V-m6OPv3zN7-DB3cz8OwAmDwb65MJ1uUjxxlnrK6qmXu5526dx91_L6BfX14sL_ETY2C7QQ</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Gaikwad, Amos</creator><creator>Rye, Cassia L.</creator><creator>Devidas, Meenakshi</creator><creator>Heerema, Nyla A.</creator><creator>Carroll, Andrew J.</creator><creator>Izraeli, Shai</creator><creator>Plon, Sharon E.</creator><creator>Basso, Giuseppe</creator><creator>Pession, Andrea</creator><creator>Rabin, Karen R.</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>7T5</scope><scope>H94</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>200903</creationdate><title>Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia</title><author>Gaikwad, Amos ; Rye, Cassia L. ; Devidas, Meenakshi ; Heerema, Nyla A. ; Carroll, Andrew J. ; Izraeli, Shai ; Plon, Sharon E. ; Basso, Giuseppe ; Pession, Andrea ; Rabin, Karen R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5332-3c20af615c23446e273431d551aa569b2812524e03b1beabc90d0342cefccf8e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>acute lymphoblastic leukaemia</topic><topic>Age Factors</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome aberrations</topic><topic>Diploidy</topic><topic>Disease-Free Survival</topic><topic>Down syndrome</topic><topic>Down Syndrome - complications</topic><topic>Down Syndrome - genetics</topic><topic>Down Syndrome - mortality</topic><topic>Enzyme Activation - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>JAK2</topic><topic>Janus Kinase 2 - genetics</topic><topic>Janus Kinase 2 - metabolism</topic><topic>Kaplan-Meier Estimate</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>paediatric</topic><topic>Point Mutation</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - enzymology</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality</topic><topic>Sequence Analysis, DNA</topic><topic>Sex Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gaikwad, Amos</creatorcontrib><creatorcontrib>Rye, Cassia L.</creatorcontrib><creatorcontrib>Devidas, Meenakshi</creatorcontrib><creatorcontrib>Heerema, Nyla A.</creatorcontrib><creatorcontrib>Carroll, Andrew J.</creatorcontrib><creatorcontrib>Izraeli, Shai</creatorcontrib><creatorcontrib>Plon, Sharon E.</creatorcontrib><creatorcontrib>Basso, Giuseppe</creatorcontrib><creatorcontrib>Pession, Andrea</creatorcontrib><creatorcontrib>Rabin, Karen R.</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>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</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>Gaikwad, Amos</au><au>Rye, Cassia L.</au><au>Devidas, Meenakshi</au><au>Heerema, Nyla A.</au><au>Carroll, Andrew J.</au><au>Izraeli, Shai</au><au>Plon, Sharon E.</au><au>Basso, Giuseppe</au><au>Pession, Andrea</au><au>Rabin, Karen R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2009-03</date><risdate>2009</risdate><volume>144</volume><issue>6</issue><spage>930</spage><epage>932</epage><pages>930-932</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Summary
Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18·9%). Mutations were overrepresented in males (P < 0·03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event‐free survival. Our results confirm the significance of JAK–STAT pathway activation in DS ALL.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>19120350</pmid><doi>10.1111/j.1365-2141.2008.07552.x</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | acute lymphoblastic leukaemia Age Factors Biological and medical sciences Child Child, Preschool Chromosome aberrations Diploidy Disease-Free Survival Down syndrome Down Syndrome - complications Down Syndrome - genetics Down Syndrome - mortality Enzyme Activation - genetics Hematologic and hematopoietic diseases Humans JAK2 Janus Kinase 2 - genetics Janus Kinase 2 - metabolism Kaplan-Meier Estimate Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Male Medical genetics Medical sciences paediatric Point Mutation Precursor Cell Lymphoblastic Leukemia-Lymphoma - enzymology Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality Sequence Analysis, DNA Sex Factors |
| title | Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia |
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