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https://hdl.handle.net/2440/106072
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dc.contributor.author | Andersson, A. | - |
dc.contributor.author | Ma, J. | - |
dc.contributor.author | Wang, J. | - |
dc.contributor.author | Chen, X. | - |
dc.contributor.author | Gedman, A. | - |
dc.contributor.author | Dang, J. | - |
dc.contributor.author | Nakitandwe, J. | - |
dc.contributor.author | Holmfeldt, L. | - |
dc.contributor.author | Parker, M. | - |
dc.contributor.author | Easton, J. | - |
dc.contributor.author | Huether, R. | - |
dc.contributor.author | Kriwacki, R. | - |
dc.contributor.author | Rusch, M. | - |
dc.contributor.author | Wu, G. | - |
dc.contributor.author | Li, Y. | - |
dc.contributor.author | Mulder, H. | - |
dc.contributor.author | Raimondi, S. | - |
dc.contributor.author | Pounds, S. | - |
dc.contributor.author | Kang, G. | - |
dc.contributor.author | Shi, L. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | Nature Genetics, 2015; 47(4):330-337 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.issn | 1546-1718 | - |
dc.identifier.uri | http://hdl.handle.net/2440/106072 | - |
dc.description | Includes 3 unnumbered pages at the end of the article. Published online 2 March 2015 | - |
dc.description.abstract | Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older children (MLL-R cases) with leukemia. Our data show that infant MLL-R ALL has one of the lowest frequencies of somatic mutations of any sequenced cancer, with the predominant leukemic clone carrying a mean of 1.3 non-silent mutations. Despite this paucity of mutations, we detected activating mutations in kinase-PI3K-RAS signaling pathway components in 47% of cases. Surprisingly, these mutations were often subclonal and were frequently lost at relapse. In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL. | - |
dc.description.statementofresponsibility | Anna K Andersson ... Charles G Mullighan ... et al. for The St. Jude Children’s Research Hospital–Washington University Pediatric Cancer Genome Project | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | © 2015 Nature America, Inc. All rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1038/ng.3230 | - |
dc.subject | Acute lymphocytic leukaemia | - |
dc.title | The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/ng.3230 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Mullighan, C. [0000-0002-1871-1850] | - |
Appears in Collections: | Aurora harvest 3 Pathology publications |
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