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Titel: Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma
VerfasserIn: Desch, Ann-Kathrin
Hartung, Kristin
Botzen, Ante
Brobeil, Alexander
Rummel, Mathias
Kurch, Lars
Georgi, Thomas
Jox, Theresa
Bielack, Stefan
Burdach, Stefan
Classen, Carl Friedrich
Claviez, Alexander
Debatin, Klaus-Michael
Ebinger, Martin
Eggert, Angelika
Faber, Jörg
Flotho, Christian
Frühwald, Michael
Graf, Norbert
Jorch, Norbert
Kontny, Udo
Kramm, Christof
Kulozik, Andreas
Kühr, Joachim
Sykora, Karl-Walter
Metzler, Markus
Müller, Hermann L.
Nathrath, Michaela
Nüßlein, Thomas
Paulussen, Michael
Pekrun, Arnulf
Reinhardt, Dirk
Reinhard, Harald
Rössig, Claudia
Sauerbrey, Axel
Schlegel, Paul-Gerhardt
Schneider, Dominik T.
Scheurlen, Wolfram
Schweigerer, Lothar
Simon, Thorsten
Suttorp, Meinolf
Vorwerk, Peter
Schmitz, Roland
Kluge, Regine
Mauz-Körholz, Christine
Körholz, Dieter
Gattenlöhner, Stefan
Bräuninger, Andreas
Sprache: Englisch
Titel: Leukemia
Bandnummer: 34 (2020)
Heft: 1
Seiten: 151-166
Verlag/Plattform: Springer Nature
Erscheinungsjahr: 2019
Freie Schlagwörter: Cancer genomics
Haematological cancer
DDC-Sachgruppe: 610 Medizin, Gesundheit
Dokumenttyp: Journalartikel / Zeitschriftenartikel
Abstract: We used hybrid capture-targeted next-generation sequencing of circulating cell-free DNA (ccfDNA) of pediatric Hodgkin lymphoma (PHL) patients to determine pathogenic mechanisms and assess the clinical utility of this method. Hodgkin-Reed/ Sternberg (HRS) cell-derived single nucleotide variants, insertions/deletions, translocations and VH-DH-JH rearrangements were detected in pretherapy ccfDNA of 72 of 96 patients. Number of variants per patient ranged from 1 to 21 with allele frequencies from 0.6 to 42%. Nine translocation breakpoints were detected. Genes involved in JAK/STAT, NFkB and PI3K signaling and antigen presentation were most frequently affected. SOCS1 variants, mainly deletions, were found in most circulating tumor (ct) DNAs, and seven of the nine translocation breakpoints involved SOCS1. Analysis of VH-DH-JH rearrangements revealed an origin of PHL HRS cells from partially selected germinal center B cells. Amounts of pretherapy ctDNA were correlated with metabolic tumor volumes. Furthermore, in all ccfDNA samples of 43 patients with early response assessment quantitative qPET < 3, indicative of a favorable clinical course, ctDNA was not detectable. In contrast, in five of six patients with qPET > 3, indicative of an unfavorable clinical course, ctDNA remained detectable. ccfDNA analysis of PHL is thus a suitable approach to determine pathogenic mechanisms and monitor therapy response.
DOI der Erstveröffentlichung: 10.1038/s41375-019-0541-6
URL der Erstveröffentlichung: https://doi.org/10.1038/s41375-019-0541-6
Link zu diesem Datensatz: urn:nbn:de:bsz:291--ds-406385
hdl:20.500.11880/36510
http://dx.doi.org/10.22028/D291-40638
ISSN: 1476-5551
0887-6924
Datum des Eintrags: 28-Sep-2023
Bezeichnung des in Beziehung stehenden Objekts: Supplementary information
In Beziehung stehendes Objekt: https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM1_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM2_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM3_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM4_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM5_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM6_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM7_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM8_ESM.pdf
https://static-content.springer.com/esm/art%3A10.1038%2Fs41375-019-0541-6/MediaObjects/41375_2019_541_MOESM9_ESM.docx
Fakultät: M - Medizinische Fakultät
Fachrichtung: M - Pädiatrie
Professur: M - Prof. Dr. Norbert Graf
Sammlung:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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