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The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Paulsson, Kajsa LU ; Lilljebjörn, Henrik LU orcid ; Biloglav, Andrea LU ; Olsson, Linda LU ; Rissler, Marianne LU ; Castor, Anders LU ; Barbany, Gisela ; Fogelstrand, Linda ; Nordgren, Ann and Sjögren, Helene , et al. (2015) In Nature Genetics 47(6). p.672-676
Abstract
High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion... (More)
High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Genetics
volume
47
issue
6
pages
672 - 676
publisher
Nature Publishing Group
external identifiers
  • wos:000355386500021
  • pmid:25961940
  • scopus:84930089675
  • pmid:25961940
ISSN
1546-1718
DOI
10.1038/ng.3301
language
English
LU publication?
yes
id
19df8d5a-4d2b-4bcb-8195-4d295001b4d0 (old id 5453530)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25961940?dopt=Abstract
date added to LUP
2016-04-01 11:07:38
date last changed
2022-04-05 00:16:43
@article{19df8d5a-4d2b-4bcb-8195-4d295001b4d0,
  abstract     = {{High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.}},
  author       = {{Paulsson, Kajsa and Lilljebjörn, Henrik and Biloglav, Andrea and Olsson, Linda and Rissler, Marianne and Castor, Anders and Barbany, Gisela and Fogelstrand, Linda and Nordgren, Ann and Sjögren, Helene and Fioretos, Thoas and Johansson, Bertil}},
  issn         = {{1546-1718}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{672--676}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Genetics}},
  title        = {{The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.}},
  url          = {{https://lup.lub.lu.se/search/files/2399817/8565525.pdf}},
  doi          = {{10.1038/ng.3301}},
  volume       = {{47}},
  year         = {{2015}},
}