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Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

  • 20% of children suffering from high hyperdiploid acute lymphoblastic leukemia develop recurrent disease. The molecular mechanisms are largely unknown. Here, we analyzed the genetic landscape of five patients at relapse, who developed recurrent disease without prior high-risk indication using whole-exome- and whole-genome-sequencing. Oncogenic mutations of RAS pathway genes (NRAS, KRAS, FLT3, n = 4) and deactivating mutations of major epigenetic regulators (CREBBP, EP300, each n = 2 and ARID4B, EZH2, MACROD2, MLL2, each n = 1) were prominent in these cases and virtually absent in non-recurrent cases (n = 6) or other pediatric acute lymphoblastic leukemia cases (n = 18).

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Document Type:Article
Parent Title (English):Leuk Res. (Leukemia Research)
First Page:990
Last Page:1001
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=26189108
Date of first publication:2015/06/14
Tag:Acute lymphoblastic leukemia; CREBBP; High hyperdiploidy; Ikaros; RAS; Relapse; TP53
Departments, institutes and facilities:Fachbereich Informatik
Institut für funktionale Gen-Analytik (IfGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2015/08/21