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

Wang, Wei; Huang, Yisen; Kong, Jianqiao; Lu, Lin; Liao, Qianxiu; Zhu, Jingtao; Wang, Tinghao; Yan, Linghua; Dai, Min; Chen, Zhan; You, Jun

Wang, Wei; Huang, Yisen; Kong, Jianqiao; Lu, Lin; Liao, Qianxiu; Zhu, Jingtao; Wang, Tinghao; Yan, Linghua; Dai, Min; Chen, Zhan; You, Jun.

Afiliación

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.

Clin Transl Oncol ; 26(8): 1976-1987, 2024 Aug.

Article en En | MEDLINE | ID: mdl-38777950

ABSTRACT

ABSTRACT

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.

Asunto(s)

ADN Tumoral Circulante; Neoplasias Colorrectales; Secuenciación de Nucleótidos de Alto Rendimiento; Mutación; Humanos; Neoplasias Colorrectales/genética; Neoplasias Colorrectales/sangre; Neoplasias Colorrectales/patología; Masculino; Femenino; ADN Tumoral Circulante/sangre; ADN Tumoral Circulante/genética; Persona de Mediana Edad; Anciano; Secuenciación de Nucleótidos de Alto Rendimiento/métodos; Proteínas Proto-Oncogénicas B-raf/genética; GTP Fosfohidrolasas/genética; Proteínas Proto-Oncogénicas p21(ras)/genética; Fosfatidilinositol 3-Quinasa Clase I/genética; Biomarcadores de Tumor/genética; Biomarcadores de Tumor/sangre; Adulto; Anciano de 80 o más Años; Proteína p53 Supresora de Tumor/genética; Receptor ErbB-2/genética; Proteína de la Poliposis Adenomatosa del Colon/genética; Proteínas de la Membrana/genética; Proteínas de la Membrana/sangre

Palabras clave

Circulating tumor DNA; Colorectal cancer; Concordance; Positive mutation rate; Tumor mutational burden

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Secuenciación de Nucleótidos de Alto Rendimiento / ADN Tumoral Circulante / Mutación Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Transl Oncol Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Italia

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google