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Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
Chang, Ting-Yu; Chen, Sheng-Wen; Lin, Wen-Hsiang; Huang, Chung-Er; Evans, Mark I; Chung, I-Fang; Wu, Janne-Wha; Ma, Gwo-Chin; Chen, Ming.
Afiliación
  • Chang TY; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 50046, Taiwan.
  • Chen SW; Department of Research, Changhua Christian Hospital, Changhua 50006, Taiwan.
  • Lin WH; Department of Bioscience Technology, Chung Yuan Christian University, Taoyuan 32023, Taiwan.
  • Huang CE; Department of Electrical Engineering, National Chung Cheng University, Chiayi 62102, Taiwan.
  • Evans MI; Cytoaurora Biotechnologies Inc., Hsinchu Science Park, Hsinchu 30261, Taiwan.
  • Chung IF; Welgene Biotechnology Company, Nangang Business Park, Taipei 11503, Taiwan.
  • Wu JW; Cytoaurora Biotechnologies Inc., Hsinchu Science Park, Hsinchu 30261, Taiwan.
  • Ma GC; Comprehensive Genetics, New York, NY 10065, USA.
  • Chen M; Department of Obstetrics and Gynecology, Icahn School of Medicine at Mt. Sinai, New York, NY 10029, USA.
Diagnostics (Basel) ; 11(6)2021 Jun 16.
Article en En | MEDLINE | ID: mdl-34208639
Epithelial ovarian cancer (EOC) is a leading cause of cancer mortality among women but unfortunately is usually not diagnosed until advanced stage. Early detection of EOC is of paramount importance to improve outcomes. Liquid biopsy of circulating tumor cells (CTCs) is emerging as one of the promising biomarkers for early detection of solid tumors. However, discrepancies in terms of oncogenomics (i.e., different genetic defects detected) between the germline, primary tumor, and liquid biopsy are a serious concern and may adversely affect downstream cancer management. Here, we illustrate the potential and pitfalls of CTCs by presenting two patients of Stage I EOC. We successfully isolated and recovered CTCs by a silicon-based nanostructured microfluidics system, the automated Cell RevealTM. We examined the genomics of CTCs as well as the primary tumor and germline control (peripheral blood mononuclear cells) by whole exome sequencing. Different signatures were then investigated by comparisons of identified mutation loci distinguishing those that may only arise in the primary tumor or CTCs. A novel model is proposed to test if the highly variable allele frequencies, between primary tumor and CTCs results, are due to allele dropout in plural CTCs or tumor heterogeneity. This proof-of-principle study provides a strategy to elucidate the possible cause of genomic discrepancy between the germline, primary tumor, and CTCs, which is helpful for further large-scale use of such technology to be integrated into clinical management protocols.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline / Prognostic_studies / Screening_studies Idioma: En Revista: Diagnostics (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline / Prognostic_studies / Screening_studies Idioma: En Revista: Diagnostics (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Suiza