The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/5453530
- author
- organization
-
- Genetic and epigenetic studies of pediatric leukemia (research group)
- Aneuploidy in cancer (research group)
- Translational Genomic and Functional Studies of Leukemia (research group)
- Division of Clinical Genetics
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
- Paediatrics (Lund)
- publishing date
- 2015
- 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}}, }