دورية أكاديمية
أعرض في EDS

Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy.

التفاصيل البيبلوغرافية
العنوان: Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy.
المؤلفون: Brosda S; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia. s.brosda@uq.edu.au., Aoude LG; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Bonazzi VF; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Patel K; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Lonie JM; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Belle CJ; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia., Newell F; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Koufariotis LT; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Addala V; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Naeini MM; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; Faculty of Medicine, St Vincent's Clinical School, University of New South Wales, Sydney, NSW, 2052, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Krause L; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia.; Microba Life Sciences, Brisbane, QLD, 4000, Australia., Waddell N; QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia., Barbour AP; Frazer Institute, The University of Queensland, 37 Kent Street, Woolloongabba, QLD, 4102, Australia.; Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
مؤلفون مشاركون: AGITG DOCTOR Investigators
المصدر: Genome medicine [Genome Med] 2024 Jul 17; Vol. 16 (1), pp. 90. Date of Electronic Publication: 2024 Jul 17.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : BioMed Central
مواضيع طبية MeSH: Esophageal Neoplasms*/genetics , Esophageal Neoplasms*/therapy , Esophageal Neoplasms*/drug therapy , Adenocarcinoma*/genetics , Adenocarcinoma*/drug therapy , Adenocarcinoma*/therapy , Mutation*, Humans ; Prognosis ; Male ; Female ; Aged ; Middle Aged ; Genetic Heterogeneity ; Genomics/methods ; Evolution, Molecular ; Whole Genome Sequencing
مستخلص: Background: Oesophageal adenocarcinoma (OAC) is a highly heterogeneous cancer with poor survival. Standard curative treatment is chemotherapy with or without radiotherapy followed by oesophagectomy. Genomic heterogeneity is a feature of OAC and has been linked to treatment resistance.
Methods: Whole-genome sequencing data from 59 treatment-naïve and 18 post-treatment samples from 29 OAC patients was analysed. Twenty-seven of these were enrolled in the DOCTOR trial, sponsored by the Australasian Gastro-Intestinal Trials Group. Two biopsies from each treatment-naïve tumour were assessed to define 'shared' (between both samples) and 'private' (present in one sample) mutations.
Results: Mutational signatures SBS2/13 (APOBEC) and SBS3 (BRCA) were almost exclusively detected in private mutation populations of treatment-naïve tumours. Patients presenting these signatures had significantly worse disease specific survival. Furthermore, mutational signatures associated with platinum-based chemotherapy treatment as well as high platinum enrichment scores were only detected in post-treatment samples. Additionally, clones with high putative neoantigen binding scores were detected in some treatment-naïve samples suggesting immunoediting of clones.
Conclusions: This study demonstrates the high intra-tumour heterogeneity in OAC, as well as indicators for treatment-induced changes during tumour evolution. Intra-tumour heterogeneity remains a problem for successful treatment strategies in OAC.
(© 2024. The Author(s).)
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معلومات مُعتمدة: APP2010313 Cancer Australia; APP2012395 Cancer Australia; RSS_2022_039 Metro South Health Research Support Scheme; CCAF2023-Aoude Cure Cancer Australia Foundation; APP1139071 National Health and Medical Research Council; APP2018244 National Health and Medical Research Council; Mitchell Crouch Fellowship Royal Australasian College of Surgeons; RSS_2020_040 PA Research Foundation; Philip Walker Surgery Research Scholarship The University of Queensland
فهرسة مساهمة: Investigator: J Simes; ET Walpole; GT Mai; DI Watson; CS Karapetis; V Gebski; EH Barnes; M Oostendorp; K Wilson; SP Ackland; J Shannon; G Marx; M Burge; R Finch; J Thomas; S Varma; L Nott
Keywords: Genetics; Oesophageal adenocarcinoma; Treatment impact; Tumour evolution; Whole-genome sequencing
SCR Disease Name: Adenocarcinoma Of Esophagus
تواريخ الأحداث: Date Created: 20240717 Date Completed: 20240718 Latest Revision: 20240720
رمز التحديث: 20240720
مُعرف محوري في PubMed: PMC11253399
DOI: 10.1186/s13073-024-01362-z
PMID: 39020404
قاعدة البيانات: MEDLINE
الوصف
تدمد:1756-994X
DOI:10.1186/s13073-024-01362-z