onr:"swepub:oai:DiVA.org:uu-482502"
Search: onr:"swepub:oai:DiVA.org:uu-482502" > Patient-Specific As...
- 1 of 1
- Previous record
- Next record
- To hitlist
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04519naa a2200541 4500 | |
| 001 | oai:DiVA.org:uu-482502 | |
| 003 | SwePub | |
| 008 | 220824s2022 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:150276488 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4825022 URI |
| 024 | 7 | a https://doi.org/10.3389/fonc.2022.8993252 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1502764882 URI |
| 040 | a (SwePub)uud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Arthur, Ceciliau Karolinska Institutet4 aut |
| 245 | 1 0 | a Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia :b A Proof of Concept Study |
| 264 | c 2022-07-05 | |
| 264 | 1 | b Frontiers Media S.A.c 2022 |
| 338 | a electronic2 rdacarrier | |
| 520 | a Risk-adapted treatment in acute lymphoblastic leukemia (ALL) relies on genetic information and measurable residual disease (MRD) monitoring. In this proof of concept study, DNA from diagnostic bone marrow (BM) of six children with ALL, without stratifying genetics or central nervous system (CNS) involvement, underwent whole-genome sequencing (WGS) to identify structural variants (SVs) in the leukemic blasts. Unique sequences generated by SVs were targeted with patient-specific droplet digital PCR (ddPCR) assays. Genomic DNA (gDNA) from BM and cell-free DNA (cfDNA) from plasma and cerebrospinal fluid (CSF) were analyzed longitudinally. WGS with 30x coverage enabled target identification in all cases. Limit of quantifiability (LoQ) and limit of detection (LoD) for the ddPCR assays (n = 15) were up to 10(-5) and 10(-6), respectively. All targets were readily detectable in a multiplexed ddPCR with minimal DNA input (1 ng of gDNA) at a 10(-1) dilution, and targets for half of the patients were also detectable at a 10(-2) dilution. The level of MRD in BM at end of induction and end of consolidation block 1 was in a comparable range between ddPCR and clinical routine methods for samples with detectable residual disease, although our approach consistently detected higher MRD values for patients with B-cell precursor ALL. Additionally, several samples with undetectable MRD by flow cytometry were MRD-positive by ddPCR. In plasma, the level of leukemic targets decreased in cfDNA over time following the MRD level detected in BM. cfDNA was successfully extracted from all diagnostic CSF samples (n = 6), and leukemic targets were detected in half of these. The results suggest that our approach to design molecular assays, together with ddPCR quantification, is a technically feasible option for accurate MRD quantification and that cfDNA may contribute valuable information regarding MRD and low-grade CNS involvement. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng |
| 653 | a acute lymphoblastic leukemia | |
| 653 | a liquid biopsy | |
| 653 | a disease monitoring | |
| 653 | a precision medicine | |
| 653 | a whole-genome sequencing | |
| 653 | a structural variation | |
| 653 | a technical feasibility | |
| 653 | a diagnostic performance | |
| 700 | 1 | a Rezayee, Fatemahu Karolinska Institutet4 aut |
| 700 | 1 | a Mogensen, Ninau Karolinska Institutet4 aut |
| 700 | 1 | a Saft, Leonieu Karolinska Institutet4 aut |
| 700 | 1 | a Rosenquist, Richardu Karolinska Institutet4 aut |
| 700 | 1 | a Nordenskjoeld, Magnusu Karolinska Institutet4 aut |
| 700 | 1 | a Harila-Saari, Arja H.u Uppsala universitet,Barnonkologisk och neurologisk forskning4 aut0 (Swepub:uu)arjha456 |
| 700 | 1 | a Tham, Emmau Karolinska Institutet4 aut |
| 700 | 1 | a Barbany, Giselau Karolinska Institutet4 aut |
| 710 | 2 | a Karolinska Institutetb Barnonkologisk och neurologisk forskning4 org |
| 773 | 0 | t Frontiers in Oncologyd : Frontiers Media S.A.g 12q 12x 2234-943X |
| 856 | 4 | u https://doi.org/10.3389/fonc.2022.899325y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1689818/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-482502 |
| 856 | 4 8 | u https://doi.org/10.3389/fonc.2022.899325 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:150276488 |
Find in a library
- Frontiers in Oncology (Search for host publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Arthur, Cecilia
- Rezayee, Fatemah
- Mogensen, Nina
- Saft, Leonie
- Rosenquist, Rich ...
- Nordenskjoeld, M ...
- show more...
- Harila-Saari, Ar ...
- Tham, Emma
- Barbany, Gisela
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Clinical Laborat ...
- Articles in the publication
- Frontiers in Onc ...
- By the university
- Uppsala University
- Karolinska Institutet
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
