Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia
type: Dataset
description: This dataset includes Duplex sequencing and targeted next generation sequencing (NGS) of 20 Infants and 7 Children with acute lymphoblastic leukmia. All patients had an underlying rearrangement of the KMT2A gene, either KMT2A::MLLT3 (n=5), KMT2A::AFF1 (n=12), KMT2A::MLLT1 (n=8) or KMT2A::MLLT10 (n=2). The median age of the cohort was 7 months. Diagnostic sample from peripheral blod (n=11) or bone marrow (n=16) underwent the duplex sequencing library preparation as described in https://doi.org/10.1073/pnas.1208715109 and sequenced on the NextSeq 500 (Illumina, San Diego, CA, USA). A subset of variants were validated by targeted multiplex-PCR followed by NGS. In six patients with available relapse samples, a screening of diagnostic variants was performed by multiplex-PCR and NGS. All targeted sequencing libraries were prepared with Nextera XT DNA Sample Preparation Kit (Illumina) and sequenced on the Illumina MiSeq.
conditions of access: https://publications.europa.eu/resource/authority/access-right/NON_PUBLIC
conditions of access: info:eu-repo/semantics/restrictedAccess
creative work status: completed
  type: DefinedTerm
  in defined term set: http://publications.europa.eu/resource/authority/dataset-status
  term code: COMPLETED
creator: Mattias Pilheden
creator: Anna Hagström Andersson
  type: Person
  family name: Hagström Andersson
  given name: Anna
date modified: 2022-04-21
date published: 2022-04-21
funding: The molecular pathogenesis of KMT2A-rearranged leukemia from infancy to adulthood and the clinical impact of tumor heterogeneity
  type: Grant
  funder: Swedish Research Council
keywords: Medical and Health Sciences
  type: DefinedTerm
  term code: 3
keywords: Biological Sciences
  type: DefinedTerm
  term code: 106
keywords: Sequence analysis
publisher: Lund University
version: 0

PropertyValue
property ID: DOI
value: 10.17044/SCILIFELAB.19380116

Mattias Pilheden
type: Person
affiliation: Science for Life Laboratory
family name: Pilheden
given name: Mattias

Science for Life Laboratory
type: Organization

Swedish Research Council
type: Organization

Lund University
type: Organization