WFRF:(Nystedt Sara)
Search: WFRF:(Nystedt Sara) > Mutational patterns...
- 6 of 8
- Previous record
- Next record
- To hitlist
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
-
- Sayyab, Shumaila (author)
- Uppsala universitet,Uppsala University,Uppsala Univ, Sweden,Molekylär medicin,Science for Life Laboratory, SciLifeLab
-
- Lundmark, Anders (author)
- Uppsala universitet,Linköping University,Uppsala Univ, Sweden,Molekylär medicin,Science for Life Laboratory, SciLifeLab
-
- Larsson, Malin (author)
- Linköpings universitet,Linköping University,Science for Life Laboratory (SciLifeLab),National Bioinformatics Infrastructure Sweden (NBIS), SciLifeLab,Bioinformatik,Tekniska fakulteten,Linköping Univ, Dept Phys Chem & Biol, Sci Life Lab, Natl Bioinformat Infrastruct Sweden, Linköping, Sweden.
- show more...
- show less...
- (creator_code:org_t)
- 2021-08-06
- 2021
- English.
- In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- The mechanisms driving clonal heterogeneity and evolution in relapsed pediatric acute lymphoblastic leukemia (ALL) are not fully understood. We performed whole genome sequencing of samples collected at diagnosis, relapse(s) and remission from 29 Nordic patients. Somatic point mutations and large-scale structural variants were called using individually matched remission samples as controls, and allelic expression of the mutations was assessed in ALL cells using RNA-sequencing. We observed an increased burden of somatic mutations at relapse, compared to diagnosis, and at second relapse compared to first relapse. In addition to 29 known ALL driver genes, of which nine genes carried recurrent protein-coding mutations in our sample set, we identified putative non-protein coding mutations in regulatory regions of seven additional genes that have not previously been described in ALL. Cluster analysis of hundreds of somatic mutations per sample revealed three distinct evolutionary trajectories during ALL progression from diagnosis to relapse. The evolutionary trajectories provide insight into the mutational mechanisms leading relapse in ALL and could offer biomarkers for improved risk prediction in individual patients.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- genomic landscape
- cancer
- signatures
- childhood
- Science & Technology - Other Topics
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
- Scientific Reports (Search for host publication in LIBRIS)
To the university's database
- 6 of 8
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Sayyab, Shumaila
- Lundmark, Anders
- Larsson, Malin
- Ringnér, Markus
- Nystedt, Sara
- Marincevic-Zunig ...
- show more...
- Tamm, K. P.
- Abrahamsson, Jon ...
- Fogelstrand, Lin ...
- Heyman, M.
- Norén-Nyström, U ...
- Lönnerholm, Gudm ...
- Harila-Saari, Ar ...
- Berglund, Eva Ca ...
- Nordlund, Jessic ...
- Syvänen, Ann-Chr ...
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Cancer and Oncol ...
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Articles in the publication
- Scientific Repor ...
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
