دورية أكاديمية
أعرض في EDS

Plasma ctDNA enhances the tissue-based detection of oncodriver mutations in colorectal cancer.

التفاصيل البيبلوغرافية
العنوان: Plasma ctDNA enhances the tissue-based detection of oncodriver mutations in colorectal cancer.
المؤلفون: Wang W; The First People's Hospital of Foshan, Foshan, 528000, Guangdong, China., Huang Y; Department of Gastroenterology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, 362002, Fujian, China., Kong J; Department of General Surgery, Xiangyang No.1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, Hubei, China., Lu L; Colorectal Surgery Department, General Hospital of Ningxia Medical University, Yinchuan, 750001, Ningxia, China., Liao Q; Department of Laboratory Medicine, Chengdu First People's Hospital, Chengdu, 610041, Sichuan, China., Zhu J; The Third Clinical Medical College, Fujian Medical University, Xiamen, 361001, Fujian, China., Wang T; The Third Clinical Medical College, Fujian Medical University, Xiamen, 361001, Fujian, China., Yan L; Shanghai Tongshu Biotechnology Co., Ltd, Shanghai, 201900, China., Dai M; Department of Pathology, Wuhu Hospital, East China Normal University (The Second People's Hospital, Wuhu), Wuhu, 241000, Anhui, China. Daimin0123@163.com., Chen Z; Department of General Surgery, Chenggong Hospital of Xiamen University School of Medicine, Xiamen, 361001, Fujian, China. 8985913@qq.com., You J; Department of Gastrointestinal Oncology Surgery, Cancer Center, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, 361001, Fujian, China. youjun@xmu.edu.cn.
المصدر: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico [Clin Transl Oncol] 2024 Aug; Vol. 26 (8), pp. 1976-1987. Date of Electronic Publication: 2024 May 22.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Country of Publication: Italy NLM ID: 101247119 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1699-3055 (Electronic) Linking ISSN: 1699048X NLM ISO Abbreviation: Clin Transl Oncol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2010- >: Milan : Springer Italia
Original Publication: Barcelona, Spain : Doyma, c2005-
مواضيع طبية MeSH: Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/blood , Colorectal Neoplasms*/pathology , Circulating Tumor DNA*/blood , Circulating Tumor DNA*/genetics , Mutation* , High-Throughput Nucleotide Sequencing*/methods, Humans ; Male ; Female ; Middle Aged ; Aged ; Proto-Oncogene Proteins B-raf/genetics ; GTP Phosphohydrolases/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Class I Phosphatidylinositol 3-Kinases/genetics ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/blood ; Adult ; Aged, 80 and over ; Tumor Suppressor Protein p53/genetics ; Receptor, ErbB-2/genetics ; Adenomatous Polyposis Coli Protein/genetics ; Membrane Proteins/genetics ; Membrane Proteins/blood
مستخلص: Purpose: The advent of circulating tumor DNA (ctDNA) technology has provided a convenient and noninvasive means to continuously monitor cancer genomic data, facilitating personalized cancer treatment. This study aimed to evaluate the supplementary benefits of plasma ctDNA alongside traditional tissue-based next-generation sequencing (NGS) in identifying targetable mutations and tumor mutational burden (TMB) in colorectal cancers (CRC).
Methods: Our study involved 76 CRC patients, collecting both tissue and plasma samples for NGS. We assessed the concordance of gene mutational status between ctDNA and tissue, focusing on actionable genes such as KRAS, NRAS, PIK3CA, BRAF, and ERBB2. Logistic regression analysis was used to explore variables associated with discordance and positive mutation rates.
Results: In total, 26 cancer-related genes were identified. The most common variants in tumor tissues and plasma samples were in APC (57.9% vs 19.7%), TP53 (55.3% vs 22.4%) and KRAS (47.4% vs 43.4%). Tissue and ctDNA showed an overall concordance of 73.53% in detecting actionable gene mutations. Notably, plasma ctDNA improved detection for certain genes and gene pools. Variables significantly associated with discordance included gender and peritoneal metastases. TMB analysis revealed a higher detection rate in tissues compared to plasma, but combining both increased detection.
Conclusions: Our study highlights the importance of analyzing both tissue and plasma for detecting actionable mutations in CRC, with plasma ctDNA offering added value. Discordance is associated with gender and peritoneal metastases, and TMB analysis can benefit from a combination of tissue and plasma data. This approach provides valuable insights for personalized CRC treatment.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 3502Z20214ZD1018 Xiamen Municipal Bureau of Science and Technology; 3502Z20209153 Xiamen Municipal Bureau of Science and Technology; 2021CXB019 Medical Innovation Project of Fujian Provincial Health Commission
فهرسة مساهمة: Keywords: Circulating tumor DNA; Colorectal cancer; Concordance; Positive mutation rate; Tumor mutational burden
المشرفين على المادة: 0 (Circulating Tumor DNA)
EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
EC 3.6.1.- (GTP Phosphohydrolases)
EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
0 (KRAS protein, human)
EC 2.7.1.137 (PIK3CA protein, human)
EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases)
0 (Biomarkers, Tumor)
EC 2.7.11.1 (BRAF protein, human)
EC 3.6.1.- (NRAS protein, human)
0 (Tumor Suppressor Protein p53)
EC 2.7.10.1 (Receptor, ErbB-2)
0 (TP53 protein, human)
EC 2.7.10.1 (ERBB2 protein, human)
0 (APC protein, human)
0 (Adenomatous Polyposis Coli Protein)
0 (Membrane Proteins)
تواريخ الأحداث: Date Created: 20240522 Date Completed: 20240715 Latest Revision: 20240718
رمز التحديث: 20240718
مُعرف محوري في PubMed: PMC11249419
DOI: 10.1007/s12094-024-03422-7
PMID: 38777950
قاعدة البيانات: MEDLINE
الوصف
تدمد:1699-3055
DOI:10.1007/s12094-024-03422-7