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The potential of liquid biopsy for detection of the KIAA1549-BRAF fusion in circulating tumor DNA from children with pilocytic astrocytoma
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden..
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden..
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden..
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2024 (Engelska)Ingår i: Neuro-Oncology Advances, E-ISSN 2632-2498, Vol. 6, nr 1, artikel-id vdae008Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Background

Low-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.

Methods

We 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.

Results

Our 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).

Conclusions

While 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.

Ort, förlag, år, upplaga, sidor
Oxford University Press, 2024. Vol. 6, nr 1, artikel-id vdae008
Nyckelord [en]
cerebrospinal fluid, cfDNA, ddPCR, KIAA1549::BRAF, pilocytic astrocytoma
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
URN: urn:nbn:se:uu:diva-524335DOI: 10.1093/noajnl/vdae008ISI: 001163714900001PubMedID: 38371226OAI: oai:DiVA.org:uu-524335DiVA, id: diva2:1842027
Forskningsfinansiär
Knut och Alice Wallenbergs StiftelseVetenskapsrådetBarncancerfonden, KP2021-0017Barncancerfonden, TJ2021-0125Cancerfonden, 22 2451Region Stockholm, FoUI-961732Region Stockholm, FoUI-973659Tillgänglig från: 2024-03-01 Skapad: 2024-03-01 Senast uppdaterad: 2024-03-01Bibliografiskt granskad

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Giraud, Geraldine

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Science for Life Laboratory, SciLifeLabNeuroonkologi och neurodegeneration
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Neuro-Oncology Advances
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