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FältnamnIndikatorerMetadata
00005700naa a2200625 4500
001oai:DiVA.org:uu-524335
003SwePub
008240301s2024 | |||||||||||000 ||eng|
009oai:DiVA.org:liu-201333
009oai:prod.swepub.kib.ki.se:238371226
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5243352 URI
0247 a https://doi.org/10.1093/noajnl/vdae0082 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-2013332 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:2383712262 URI
040 a (SwePub)uud (SwePub)liud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Krynina, Olhau Karolinska Institutet4 aut
2451 0a The potential of liquid biopsy for detection of the KIAA1549-BRAF fusion in circulating tumor DNA from children with pilocytic astrocytoma
264 1b Oxford University Press,c 2024
338 a electronic2 rdacarrier
500 a Funding Agencies|Barncancerfonden/The Barncancerfonden; Swedish Childhood Tumor Biobank - Barncancerfonden/The Swedish Childhood Cancer Fund; National Genomics Infrastructure in Stockholm - Science for Life Laboratory; Knut and Alice Wallenberg Foundation; Swedish Research Council
520 a BackgroundLow-grade gliomas (LGGs) represent children’s most prevalent central nervous system tumor, necessitating molecular profiling to diagnose and determine the most suitable treatment. Developing highly sensitive screening techniques for liquid biopsy samples is particularly beneficial, as it enables the early detection and molecular characterization of tumors with minimally invasive samples.MethodsWe examined CSF and plasma samples from patients with pilocytic astrocytoma (PA) using custom multiplexed droplet digital polymerase chain reaction (ddPCR) assays based on whole genome sequencing data. These assays included a screening test to analyze BRAF duplication and a targeted assay for the detection of patient-specific KIAA1549::BRAF fusion junction sequences or single nucleotide variants.ResultsOur findings revealed that 5 out of 13 individual cerebrospinal fluid (CSF) samples tested positive for circulating tumor DNA (ctDNA). Among these cases, 3 exhibited the KIAA1549::BRAF fusion, which was detected through copy number variation (CNV) analysis (n = 1) or a fusion-specific probe (n = 2), while 1 case each displayed the BRAF V600E mutation and the FGFR1 N577K mutation. Additionally, a quantitative analysis of cell-free DNA (cfDNA) concentrations in PA CSF samples showed that most cases had low cfDNA levels, below the limit of detection of our assay (<1.9 ng).ConclusionsWhile CNV analysis of CSF samples from LGGs still has some limitations, it has the potential to serve as a valuable complementary tool. Furthermore, it can also be multiplexed with other aberrations, for example, to the BRAF V600 test, to provide important insights into the molecular characteristics of LGGs.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
653 a cerebrospinal fluid
653 a cfDNA
653 a ddPCR
653 a KIAA1549::BRAF
653 a pilocytic astrocytoma
7001 a Díaz de Ståhl, Teresitau Karolinska Institutet4 aut
7001 a Jylhä, Ceciliau Karolinska Institutet4 aut
7001 a Arthur, Ceciliau Karolinska Institutet4 aut
7001 a Giraud, Geraldineu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Neuroonkologi och neurodegeneration,Akademiska University Hospital, Uppsala, Sweden,Rudbeck Lab, Sweden; Akadem Univ Hosp, Sweden4 aut0 (Swepub:uu)gergi266
7001 a Nyman, Peru Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Centrum för medicinsk bildvetenskap och visualisering, CMIV,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus4 aut0 (Swepub:liu)perny73
7001 a Fritzberg, Andersu Clin Pediat Falun Hosp, Daycare Unit Oncol & Hematol, Dalarna, Dalarna Region, Sweden.4 aut
7001 a Sandgren, Johannau Karolinska Institutet4 aut
7001 a Tham, Emmau Karolinska Institutet4 aut
7001 a Sandvik, Ulrikau Karolinska Institutet4 aut
7102 a Karolinska Institutetb Science for Life Laboratory, SciLifeLab4 org
7730 t Neuro-Oncology Advancesd : Oxford University Pressg 6:1q 6:1x 2632-2498
8564 u https://doi.org/10.1093/noajnl/vdae008y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1842027/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-524335
8564 8u https://doi.org/10.1093/noajnl/vdae008
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-201333
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:238371226

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