The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
Författare
Summary, in English
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.
Avdelning/ar
- Genetiska och epigenetiska studier av barnleukemi
- Aneuploidi i cancer
- Translationella genomiska och funktionella studier av leukemi
- Avdelningen för klinisk genetik
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
- Pediatrik, Lund
Publiceringsår
2015
Språk
Engelska
Sidor
672-676
Publikation/Tidskrift/Serie
Nature Genetics
Volym
47
Issue
6
Fulltext
- Available as PDF - 394 kB
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Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Nature Publishing Group
Ämne
- Medical Genetics
Status
Published
Forskningsgrupp
- Genetic and epigenetic studies of pediatric leukemia
- Aneuploidy in cancer
- Translational Genomic and Functional Studies of Leukemia
ISBN/ISSN/Övrigt
- ISSN: 1546-1718