Umeå University's logo

umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Department of Cell and Molecular Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Show others and affiliations
2023 (English)In: Journal of Translational Medicine, E-ISSN 1479-5876, Vol. 21, no 1, article id 342Article in journal (Refereed) Published
Abstract [en]

The Swedish Childhood Tumor Biobank (BTB) is a nonprofit national infrastructure for collecting tissue samples and genomic data from pediatric patients diagnosed with central nervous system (CNS) and other solid tumors. The BTB is built on a multidisciplinary network established to provide the scientific community with standardized biospecimens and genomic data, thereby improving knowledge of the biology, treatment and outcome of childhood tumors. As of 2022, over 1100 fresh-frozen tumor samples are available for researchers. We present the workflow of the BTB from sample collection and processing to the generation of genomic data and services offered. To determine the research and clinical utility of the data, we performed bioinformatics analyses on next-generation sequencing (NGS) data obtained from a subset of 82 brain tumors and patient blood-derived DNA combined with methylation profiling to enhance the diagnostic accuracy and identified germline and somatic alterations with potential biological or clinical significance. The BTB procedures for collection, processing, sequencing, and bioinformatics deliver high-quality data. We observed that the findings could impact patient management by confirming or clarifying the diagnosis in 79 of the 82 tumors and detecting known or likely driver mutations in 68 of 79 patients. In addition to revealing known mutations in a broad spectrum of genes implicated in pediatric cancer, we discovered numerous alterations that may represent novel driver events and specific tumor entities. In summary, these examples reveal the power of NGS to identify a wide number of actionable gene alterations. Making the power of NGS available in healthcare is a challenging task requiring the integration of the work of clinical specialists and cancer biologists; this approach requires a dedicated infrastructure, as exemplified here by the BTB.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023. Vol. 21, no 1, article id 342
Keywords [en]
Biobank, Bioinformatics, Childhood cancer, Genomic, Methylation, Mutation, Next generation sequence
National Category
Cancer and Oncology Bioinformatics and Computational Biology
Identifiers
URN: urn:nbn:se:umu:diva-209147DOI: 10.1186/s12967-023-04178-4ISI: 000993861500002PubMedID: 37221626Scopus ID: 2-s2.0-85159966886OAI: oai:DiVA.org:umu-209147DiVA, id: diva2:1774778
Projects
sens2017102
Funder
Swedish Childhood Cancer Foundation, BB2013-0001Swedish Childhood Cancer Foundation, BB2015-0001Swedish Childhood Cancer Foundation, BB2017-0001Swedish Childhood Cancer Foundation, BB2018-0001-2Swedish Childhood Cancer Foundation, BB2019-0001Swedish Childhood Cancer Foundation, BBS2020-0001Swedish Childhood Cancer Foundation, BBS2021-0001Science for Life Laboratory, SciLifeLabKnut and Alice Wallenberg FoundationSwedish National Infrastructure for Computing (SNIC)Uppsala UniversityAvailable from: 2023-06-26 Created: 2023-06-26 Last updated: 2025-02-05Bibliographically approved

Open Access in DiVA

fulltext(1287 kB)93 downloads
File information
File name FULLTEXT01.pdfFile size 1287 kBChecksum SHA-512
335c834685a2b8c4ce70f5f64d42fa4bb54364ea03fa79f6dede04a5e48ab01515fff9c6f743e07dc4a7af86821bb151e75cafdc28e3c46bcec6667e5f629757
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMedScopus

Authority records

Sandström, Per-Erik

Search in DiVA

By author/editor
Sandström, Per-Erik
By organisation
Paediatrics
In the same journal
Journal of Translational Medicine
Cancer and OncologyBioinformatics and Computational Biology

Search outside of DiVA

GoogleGoogle Scholar
Total: 93 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 210 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf