MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.
作者： Wendy Chang , Andrew S Brohl , Rajesh Patidar , Sivasish Sindiri , Jack F Shern
DOI: 10.1158/1078-0432.CCR-15-2717
关键词: Medicine 、 Oncology 、 Chemotherapy 、 Clinical trial 、 Young adult 、 Drug resistance 、 Exome sequencing 、 Precision medicine 、 Germline mutation 、 Internal medicine 、 Bioinformatics 、 Germline
摘要: Purpose: We undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed refractory cancers to determine the feasibility genome-guided precision therapy. Experimental Design: Patients non-central nervous system solid tumors underwent combination whole exome sequencing (WES), transcriptome (WTS), high-density single-nucleotide polymorphism array analysis tumor, WES matched germline DNA. Clinically actionable alterations were identified as reportable mutation, diagnosis change, or somatic event (including single nucleotide variant, an indel, amplification, deletion, fusion gene), which could be targeted drugs in existing trials FDA-approved drugs. Results: Fifty-nine patients 20 diagnostic categories enrolled from 2010 2014. Ages ranged 7 months 25 years old. Seventy-three percent had prior chemotherapy, these higher mutational burden than that reported literature. Thirty (51% total) clinically mutations, 24 (41%) mutation was currently targetable trial setting, 4 (7%) change diagnosis, (12%) mutation. Conclusions: found remarkably high number mutations 51% patients, 12% significant mutations. demonstrated next-generation diverse population pediatric tumors. Clin Cancer Res; 22(15); 3810–20. ©2016 AACR.
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