Dataset Information

The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.

ABSTRACT: Circulating tumor cells (CTCs) are an important part in the field of "liquid biopsy." However, major questions remain to be answered whether the mutations in the CTCs represent the mutations in primary tumor tissue and metastatic tumors. We compared the genetic mutations between CTCs and their matched tumors, and extracted data on the heterogeneity of the mutational status in CTCs and the change in mutations of CTCs before and during treatment. For mutations detected in single genes, we calculated the concordance of the mutations between the CTCs and primary tumor tissue. For mutations detected in multiple genes, we calculated the concordance of the mutations between the CTCs and primary/metastatic tumor tissue. The heterogeneity of the mutational status is clearly present in CTCs. For mutations detected in a single gene, the overall concordance of mutations is 53.05%. For mutations detected in multiple genes, the concordance of mutations is extremely different. The heterogeneity of the mutational status existed in single CTCs, and the mutational status of CTCs was discordant with that of tumor tissue.

SUBMITTER: Wang Q

PROVIDER: S-EPMC6804648 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.

Wang Qi Q Zhao Lanbo L Han Lu L Tuo Xiaoqian X Ma Sijia S Wang Yiran Y Feng Xue X Liang Dongxin D Sun Chao C Wang Qing Q Song Qing Q Li Qiling Q

Molecular therapy oncolytics 20190829

Circulating tumor cells (CTCs) are an important part in the field of "liquid biopsy." However, major questions remain to be answered whether the mutations in the CTCs represent the mutations in primary tumor tissue and metastatic tumors. We compared the genetic mutations between CTCs and their matched tumors, and extracted data on the heterogeneity of the mutational status in CTCs and the change in mutations of CTCs before and during treatment. For mutations detected in single genes, we calculat ...[more]

PMID: 31650022

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Project description:BACKGROUND:Characterization of the driver mutations in an individual metastatic breast cancer (MBC) patient is critical to selecting effective targeted therapies. Currently, it is believed that the limited efficacy of many targeted drugs may be due to the expansion of drug resistant clones with different genotypes that were already present in the primary tumor. Identifying the genomic alterations of these clones, and introducing combined or sequential targeted drug regimens, could lead to a significant increase in the efficacy of currently available targeted therapies. OBJECTIVE:The primary objective of this study is to assess the concordance/discordance of mutations between the primary tumor and metastatic tissue in MBC patients. Secondary objectives include comparing the genomic profiles of circulating tumor cells (CTCs) and circulating free DNA (cfDNA) from peripheral blood with those of the primary tumor and metastatic tissue for each patient, evaluating these mutations in the signaling pathways that are relevant to the disease, and testing the feasibility of introducing liquid biopsy as a translational laboratory tool in clinical practice. METHODS:The multicenter, transversal, observational MIRROR study is currently ongoing in three participating hospitals. All consecutive patients with MBC confirmed by radiologic findings will be screened for eligibility, either at first relapse or if tumor regrowth occurs while on treatment for metastatic disease. RESULTS:Patient recruitment is currently ongoing. To date, 41 patients have a complete set of tissue samples available (plasma, CTCs, and formalin-fixed, paraffin-embedded primary tumor and metastatic tumor). However, none of these samples have undergone nucleic acids extraction or targeted deep sequencing. CONCLUSIONS:The results of this study may have a significant influence on the practical management of patients with MBC, and may provide clues to clinicians that lead towards a better stratification of patients, resulting in more selective and less toxic treatments. Additionally, if genomic mutations found in metastatic tissues are similar to those detected in CTCs and/or cfDNA, liquid biopsies could prove to be a more convenient, non-invasive, and easily accessible source of genomic material for the analysis of mutations and other genomic aberrations in MBC. TRIAL REGISTRATION:ClinicalTrials.gov NCT02626039; https://clinicaltrials.gov/ct2/show/NCT02626039 (Archived by WebCite at http://www.webcitation.org/6jlneVyoz).

Dataset Information

The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.

Publications

The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.

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