| |  Online-Ressource |
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| Verfasst von: | McConnell, Lauren [VerfasserIn]  |
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| | Gazdova, Jana [VerfasserIn] |
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| | Beck-Ringger, Katja [VerfasserIn] |
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| | Srivastava, Shambhavi [VerfasserIn] |
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| | Harewood, Louise [VerfasserIn] |
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| | Stewart, Peter [VerfasserIn] |
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| | Hübschmann, Daniel [VerfasserIn] |
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| | Stenzinger, Albrecht [VerfasserIn] |
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| | Glimm, Hanno [VerfasserIn] |
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| | Heilig, Christoph E. [VerfasserIn] |
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| | Fröhling, Stefan [VerfasserIn] |
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| | Gonzalez, David [VerfasserIn] |
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| Titel: | Detection of structural variants in circulating cell-free DNA from sarcoma patients using next generation sequencing |
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| Verf.angabe: | Lauren Mc Connell, Jana Gazdova, Katja Beck, Shambhavi Srivastava, Louise Harewood, JP Stewart, Daniel Hübschmann, Albrecht Stenzinger, Hanno Glimm, Christoph E. Heilig, Stefan Fröhling and David Gonzalez |
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| E-Jahr: | 2020 |
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| Jahr: | 3 December 2020 |
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| Umfang: | 9 S. |
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| Fussnoten: | Gesehen am 03.03.2022 |
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| Titel Quelle: | Enthalten in: Cancer research |
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| Ort Quelle: | Philadelphia, Pa. : AACR, 1916 |
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| Jahr Quelle: | 2020 |
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| Band/Heft Quelle: | 12(2020), 12, Artikel-ID 3627, Seite 1-9 |
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| ISSN Quelle: | 1538-7445 |
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| Abstract: | Circulating tumour DNA (ctDNA) analysis using next generation sequencing (NGS) is being implemented in clinical practice for treatment stratification and disease monitoring. However, using ctDNA to detect structural variants, a common occurrence in sarcoma, can be challenging. Here, we use a sarcoma-specific targeted NGS panel to identify translocations and copy number variants in a cohort of 12 tissue specimens and matched circulating cell-free DNA (cfDNA) from soft tissue sarcoma patients, including alveolar rhabdomyosarcoma (n = 2), Ewing’s Sarcoma (n = 2), synovial sarcoma (n = 2), extraskeletal myxoid chondrosarcoma (n = 1), clear cell sarcoma (n = 1), undifferentiated round cell sarcoma (n = 1), myxoid liposarcoma (n = 1), alveolar soft part cell sarcoma (n = 1) and dedifferentiated liposarcoma (n = 1). Structural variants were detected in 11/12 (91.6%) and 6/12 (50%) of tissue and plasma samples, respectively. Structural variants were detected in cfDNA at variant allele frequencies >0.2% with an average sequencing depth of 1026×. The results from this cohort show clinical potential for using NGS in ctDNA to aid in the diagnosis and clinical monitoring of sarcomas and warrant additional studies in larger cohorts. |
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| DOI: | doi:10.3390/cancers12123627 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.3390/cancers12123627 |
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| | Volltext: https://www.mdpi.com/2072-6694/12/12/3627 |
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| | DOI: https://doi.org/10.3390/cancers12123627 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | cell-free DNA |
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| | next generation sequencing |
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| | sarcoma |
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| | translocations |
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| K10plus-PPN: | 1788514378 |
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| Verknüpfungen: | → Zeitschrift |
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Detection of structural variants in circulating cell-free DNA from sarcoma patients using next generation sequencing / McConnell, Lauren [VerfasserIn]; 3 December 2020 (Online-Ressource)
