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  • Wong, Marie; Mayoh, Chelsea; Lau, Loretta M S; Khuong-Quang, Dong-Anh; Pinese, Mark; Kumar, Amit; Barahona, Paulette; Wilkie, Emilie E; Sullivan, Patricia; Bowen-James, Rachel; Syed, Mustafa; Martincorena, Iñigo; Abascal, Federico; Sherstyuk, Alexandra; Bolanos, Noemi A; Baber, Jonathan; Priestley, Peter; Dolman, M Emmy M; Fleuren, Emmy D G; Gauthier, Marie-Emilie; Mould, Emily V A; Gayevskiy, Velimir; Gifford, Andrew J; Grebert-Wade, Dylan; Strong, Patrick A; Manouvrier, Elodie; Warby, Meera; Thomas, David M; Kirk, Judy; Tucker, Katherine; O'Brien, Tracey; Alvaro, Frank; McCowage, Geoffry B; Dalla-Pozza, Luciano; Gottardo, Nicholas G; Tapp, Heather; Wood, Paul; Khaw, Seong-Lin; Hansford, Jordan R; Moore, Andrew S; Norris, Murray D; Trahair, Toby N; Lock, Richard B; Tyrrell, Vanessa; Haber, Michelle; Marshall, Glenn M; Ziegler, David S; Ekert, Paul G; Cowley, Mark J

    Nature medicine, 11/2020, Letnik: 26, Številka: 11
    Journal Article

    The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% in WGS only and 25.0% in RNAseq only). Of these patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 central nervous system tumors, methylome analysis confirmed diagnosis in 71.1% of patients and contributed to a change of diagnosis in two patients (2.6%). To date, 43 patients have received a recommended therapy, 38 of whom could be evaluated, with 31% showing objective evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, leading to clinical benefit in some patients.