Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology

被引：0

作者：

Kerle, Irina A. ^{[1
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Gross, Thomas ^{[2
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Koegler, Anja ^{[2
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]}

Arnold, Jonas S. ^{[2
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]}

Werner, Maximilian ^{[1
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Eckardt, Jan-Niklas ^{[15
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]}

Moehrmann, Elena E. ^{[1
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Arlt, Marie ^{[2
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Hutter, Barbara ^{[17
,18
]}

Huellein, Jennifer ^{[17
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]}

Richter, Daniela ^{[1
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]}

Schneider, Martin M. K. ^{[15
]}

Hlevnjak, Mario ^{[17
,18
]}

Moehrmann, Lino ^{[1
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Hanf, Dorothea ^{[1
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Heilig, Christoph E. ^{[20
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,22
]}

Kreutzfeldt, Simon ^{[20
,21
]}

Teleanu, Maria-Veronica ^{[20
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]}

Schroeck, Evelin ^{[2
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Huebschmann, Daniel ^{[17
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Horak, Peter ^{[20
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Heining, Christoph ^{[1
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Froehling, Stefan ^{[20
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Glimm, Hanno ^{[1
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机构：

[1] UCC, Fac Med, Natl Ctr Tumor Dis Dresden NCT, DKFZ,Dept Translat Med Oncol, Dresden, Germany

[2] Univ Hosp Carl Gustav Carus, TUD Dresden Univ Technol, Dresden, Germany

[3] Helmholtz Zentrum Dresden Rossendorf HZDR, Dresden, Germany

[4] Univ Hosp Carl Gustav Carus, Fac Med, Translat Med Oncol, Dresden, Germany

[5] Univ Hosp Carl Gustav Carus, TUD Dresden Univ Technol, Dresden, Germany

[6] German Canc Consortium DKTK Partner Site Dresden, Partner Site Dresden, Dresden, Germany

[7] UCC, Fac Med, Natl Ctr Tumor Dis NCT, German Canc Res Ctr DKFZ,Core Unit Mol Tumor Diagn, Dresden, Germany

[8] Univ Hosp Carl Gustav Carus, TUD Dresden Univ Technol, Inst Clin Genet, Dresden, Germany

[9] TUD Dresden Univ Technol, Fac Med, Dresden, Germany

[10] Hereditary Canc Syndrome Ctr Dresden, ERN GENTURIS, Dresden, Germany

[11] UCC Dresden, Fac Med, Natl Ctr Tumor Dis Dresden NCT, German Canc Res Ctr DKFZ,NCT, Dresden, Germany

[12] German Canc Consortium DKTK, Dresden, Germany

[13] German Canc Res Ctr, Heidelberg, Germany

[14] Max Planck Inst Mol Cell Biol & Genet, Dresden, Germany

[15] Univ Hosp Carl Gustav Carus Dresden, Dept Internal Med 1, Dresden, Germany

[16] Tech Univ Dresden, Else Kroner Fresenius Ctr Digital Hlth, Dresden, Germany

[17] NCT Heidelberg, Mol Precis Oncol Program, Computat Oncol Grp, Heidelberg, Germany

[18] DKFZ, Heidelberg, Germany

[19] German Canc Res Ctr DKFZ Heidelberg, Div Appl Funct Genom, Heidelberg, Germany

[20] Natl Ctr Tumor Dis NCT Heidelberg, Div Translat Med Oncol, Heidelberg, Germany

[21] German Canc Res Ctr, Heidelberg, Germany

[22] Univ Heidelberg Hosp, Dept Hematol Oncol & Rheumatol, Heidelberg, Germany

[23] German Canc Consortium DKTK, Heidelberg, Germany

[24] DKFZ, Bioinformat & Precis Med BPM, Innovat & Serv Unit, Heidelberg, Germany

[25] Heidelberg Inst Stem Cell Technol & Expt Med, HI STEM, Heidelberg, Germany

[26] Heidelberg Univ, Inst Human Genet, Heidelberg, Germany

来源：

NPJ PRECISION ONCOLOGY | 2025年 / 9卷 / 01期

关键词：

DROSOPHILA-MELANOGASTER; CANCER; PROGRAM; REPAIR; GENE;

D O I：

10.1038/s41698-024-00788-3

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Precision oncology offers new cancer treatment options, yet sequencing methods vary in type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and transcriptome sequencing (TS) with broad panel sequencing by resequencing the same tumor DNA and RNA as well as normal tissue DNA for germline assessment, from 20 patients with rare or advanced tumors, who were originally sequenced by WES/WGS +/- TS within the DKFZ/NCT/DKTK MASTER program from 2015 to 2020. Molecular analyses resulted in a median number of 2.5 (gene panel) to 3.5 (WES/WGS +/- TS) treatment recommendations per patient. Our results showed that approximately half of the therapy recommendations (TRs) of both sequencing programs were identical, while approximately one-third of the TRs in WES/WGS +/- TS relied on biomarkers not covered by the panel. Eight of 10 molecularly informed therapy implementations were supported by the panel, the remaining two were based on biomarkers absent from the panel, highlighting the potential additional clinical benefit of WGS and TS.

引用

页数：10

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