دورية أكاديمية
أعرض في EDS

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

التفاصيل البيبلوغرافية
العنوان: Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.
المؤلفون: Murphy AJ; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. andrew.murphy@stjude.org.; Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center, Memphis, TN, 38105, USA. andrew.murphy@stjude.org., Cheng C; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Williams J; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Shaw TI; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Pinto EM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Dieseldorff-Jones K; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Brzezinski J; Department of Oncology, The Hospital for Sick Children, Toronto, ON, Canada., Renfro LA; Children's Oncology Group and Department of Population and Public Health Sciences, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA., Tornwall B; Children's Oncology Group Statistics and Data Center, Monrovia, CA, USA., Huff V; Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Hong AL; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Mullen EA; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, 02215, USA., Crompton B; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, 02215, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Dome JS; Center for Cancer and Blood Disorders, Children's National Hospital, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Fernandez CV; IWK Health Center and Dalhousie University, Halifax, NS, Canada., Geller JI; Division of Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA., Ehrlich PF; Section of Pediatric Surgery, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA., Mulder H; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Oak N; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA., Maciezsek J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Jablonowski CM; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Fleming AM; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center, Memphis, TN, 38105, USA., Pichavaram P; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Morton CL; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Easton J; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Nichols KE; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA., Clay MR; Department of Pathology, University of Colorado Anschutz, Aurora, CO, USA., Santiago T; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Zhang J; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Yang J; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Zambetti GP; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Wang Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA., Davidoff AM; Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center, Memphis, TN, 38105, USA., Chen X; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Xiang.chen@stjude.org.
المصدر: Nature communications [Nat Commun] 2023 Dec 18; Vol. 14 (1), pp. 8006. Date of Electronic Publication: 2023 Dec 18.
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: Wilms Tumor*/genetics , Wilms Tumor*/pathology , Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology, Child ; Humans ; Genotype ; DNA Methylation/genetics ; DNA ; Epigenesis, Genetic ; Genomic Imprinting
مستخلص: Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61 patients with matched germline blood DNA), RNA-seq (n = 99 tumors), and DNA methylation analysis (n = 61 peripheral blood, n = 29 non-diseased kidney, n = 99 tumors). We determine the predominant events for bilateral Wilms tumor predisposition: 1)pre-zygotic germline genetic variants readily detectable in blood DNA [WT1 (14.8%), NYNRIN (6.6%), TRIM28 (5%), and BRCA-related genes (5%)] or 2)post-zygotic epigenetic hypermethylation at 11p15.5 H19/ICR1 that may require analysis of multiple tissue types for diagnosis. Of 99 total tumor specimens, 16 (16.1%) have 11p15.5 normal retention of imprinting, 25 (25.2%) have 11p15.5 copy neutral loss of heterozygosity, and 58 (58.6%) have 11p15.5 H19/ICR1 epigenetic hypermethylation (loss of imprinting). Here, we ascertain the epigenetic and genetic modes of bilateral Wilms tumor predisposition.
(© 2023. The Author(s).)
التعليقات: Update of: Res Sq. 2023 Mar 16:rs.3.rs-2675436. doi: 10.21203/rs.3.rs-2675436/v1. (PMID: 36993649)
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معلومات مُعتمدة: R50 CA275931 United States CA NCI NIH HHS; R01 CA229739 United States CA NCI NIH HHS; L40 CA242492 United States CA NCI NIH HHS; P30 CA021765 United States CA NCI NIH HHS; K08 CA255569 United States CA NCI NIH HHS; U10 CA098543 United States CA NCI NIH HHS; U10 CA180899 United States CA NCI NIH HHS; U10 CA180886 United States CA NCI NIH HHS; R01 CA266600 United States CA NCI NIH HHS; U10 CA098413 United States CA NCI NIH HHS; U24 CA114766 United States CA NCI NIH HHS
المشرفين على المادة: 9007-49-2 (DNA)
تواريخ الأحداث: Date Created: 20231218 Date Completed: 20231220 Latest Revision: 20240704
رمز التحديث: 20240704
مُعرف محوري في PubMed: PMC10728430
DOI: 10.1038/s41467-023-43730-0
PMID: 38110397
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-023-43730-0