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Reason: Sequencing was performed at Division of Clinical Genetics, Lund university, and the sequencing data is stored locally in our lab. We will deposit the data to EGA-SE depository when it is completed.

Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia

posted on 2022-04-19, 06:41 authored by Mattias PilhedenMattias Pilheden, Anna Hagström Andersson

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 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.



CAN 2017/438

The molecular pathogenesis of KMT2A-rearranged leukemia from infancy to adulthood and the clinical impact of tumor heterogeneity

Swedish Research Council

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The Knut and Alice Wallenberg Foundation

The Craaford Foundation

The Per-Eric and Ulla Schyberg Foundation

The Nilsson-Ehle Donations

Governmental funding of Clinical Research within the National Health Service



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