دورية أكاديمية
أعرض في EDS

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

التفاصيل البيبلوغرافية
العنوان: Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
المؤلفون: Deyell RJ; Department of Pediatrics, BC Children's Hospital and Research Institute, Vancouver, BC, Canada. rdeyell@cw.bc.ca., Shen Y; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Titmuss E; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Dixon K; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Williamson LM; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Pleasance E; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Nelson JMT; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Abbasi S; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Krzywinski M; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bonakdar M; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Ch'ng C; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Chuah E; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Dunham C; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Fok A; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Jones M; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Lee AF; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Ma Y; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Moore RA; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Mungall AJ; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Mungall KL; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Rogers PC; Department of Pediatrics, BC Children's Hospital and Research Institute, Vancouver, BC, Canada., Schrader KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Virani A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Wee K; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Young SS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Cancer Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine, BC Cancer, Vancouver, Canada., Zhao Y; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada., Jones SJM; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada., Laskin J; Department of Medical Oncology, BC Cancer, Vancouver, BC, Canada., Marra MA; Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Rassekh SR; Department of Pediatrics, BC Children's Hospital and Research Institute, Vancouver, BC, Canada. rrassekh@cw.bc.ca.
المصدر: Nature communications [Nat Commun] 2024 May 16; Vol. 15 (1), pp. 4165. Date of Electronic Publication: 2024 May 16.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Neoplasms*/genetics , Neoplasms*/therapy , Gene Expression Profiling*/methods , DNA Copy Number Variations*, Humans ; Child ; Female ; Adolescent ; Male ; Child, Preschool ; Prognosis ; Infant ; Transcriptome ; Young Adult ; Whole Genome Sequencing ; Germ-Line Mutation ; Mutation ; Genome, Human/genetics ; Genetic Predisposition to Disease
مستخلص: The role for routine whole genome and transcriptome analysis (WGTA) for poor prognosis pediatric cancers remains undetermined. Here, we characterize somatic mutations, structural rearrangements, copy number variants, gene expression, immuno-profiles and germline cancer predisposition variants in children and adolescents with relapsed, refractory or poor prognosis malignancies who underwent somatic WGTA and matched germline sequencing. Seventy-nine participants with a median age at enrollment of 8.8 y (range 6 months to 21.2 y) are included. Germline pathogenic/likely pathogenic variants are identified in 12% of participants, of which 60% were not known prior. Therapeutically actionable variants are identified by targeted gene report and whole genome in 32% and 62% of participants, respectively, and increase to 96% after integrating transcriptome analyses. Thirty-two molecularly informed therapies are pursued in 28 participants with 54% achieving a clinical benefit rate; objective response or stable disease ≥6 months. Integrated WGTA identifies therapeutically actionable variants in almost all tumors and are directly translatable to clinical care of children with poor prognosis cancers.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 202SEQ, 212SEQ, 262SEQ, 12002 Genome Canada (Génome Canada); 20070, 30981, 30198, 33408 and 35444 Canada Foundation for Innovation (Fondation canadienne pour l'innovation); B20POG Genome British Columbia
تواريخ الأحداث: Date Created: 20240516 Date Completed: 20240516 Latest Revision: 20240519
رمز التحديث: 20240519
مُعرف محوري في PubMed: PMC11099106
DOI: 10.1038/s41467-024-48363-5
PMID: 38755180
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-024-48363-5