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NGS Analysis of Plasma cfDNA and cfmiRNA Signatures in Melanoma Brain Metastasis Patients

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Circulating Tumor Cells

Part of the book series: Current Cancer Research ((CUCR))

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Abstract

Cutaneous melanoma patients suffer from poor prognosis particularly when the disease has spread to the brain. Hence, it is critical the early detection and diagnosis of melanoma brain metastasis (MBM). Molecular profiling of circulating cell-free nucleic acids (cfNAs) such as circulating tumor DNA (ctDNA) or cell-free microRNA (cfmiRNA) from blood allows for non-invasive cancer diagnosis. Blood-based cfNA profiling is a non-invasive approach permitting real-time assessment for patient monitoring and management.

Using a 70-gene panel next-generation sequencing (NGS) assay, our group identified its diagnostic utility in ctDNA of MBM patients (n = 26) and revealed insight into the molecular ctDNA profiles in relation to respective paired MBM tumor. Utilizing the assay, ctDNA genomic aberrations were identified in 81% of the patients. Single-nucleotide variation (SNV) profiles in matched blood ctDNA-tumor suggested the presence of tumor genomic aberration heterogeneity. In addition, we also detected MBM-related cfmiRNAs in MBM patients that were negative for ctDNA, suggesting cfmiRNAs can also be assessed as a complementary blood biomarker to ctDNA. Overall, this is a clinical useful diagnostic approach that can be applied to real-time monitoring and managing of MBM patients.

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Acknowledgments

We thank the Department of Translational Molecular Medicine at SJCI and Guardant Health Inc. We also thank Robyn Sapico for the graphic design expertise. This research was funded by Miriam and Sheldon G. Adelson Medical Research Foundation award to D.S.B.H. and the Borstein Family Foundation.

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Authors and Affiliations

  1. Department of Translational Molecular Medicine, Saint John’s Cancer Institute at Providence Saint John’s Health Center, Santa Monica, CA, USA

    Romela Irene Ramos, Selena Y. Lin, Matias A. Bustos & Dave S. B. Hoon

  2. Pacific Neuroscience Institute, Brain Tumor and Pituitary Disorders Center, Saint John’s Cancer Institute at Providence Saint John’s Health Center, Santa Monica, CA, USA

    Amy Eisenberg & Daniel F. Kelly

  3. Department of Genomic Sequencing Center, Saint John’s Cancer Institute at Providence Saint John’s Health Center, Santa Monica, CA, USA

    Suyeon Ryu, Linh T. Tran & Dave S. B. Hoon

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  1. Romela Irene Ramos
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  2. Selena Y. Lin
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Correspondence to Dave S. B. Hoon .

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Editors and Affiliations

  1. Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, MO, USA

    Richard J. Cote

  2. ACTC Lab, Laboratory of Analytical Chemistry, Department of Chemistry, National and Kapodistrian University of Athens, Athens, Greece

    Evi Lianidou

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Ramos, R.I. et al. (2023). NGS Analysis of Plasma cfDNA and cfmiRNA Signatures in Melanoma Brain Metastasis Patients. In: Cote, R.J., Lianidou, E. (eds) Circulating Tumor Cells. Current Cancer Research. Springer, Cham. https://doi.org/10.1007/978-3-031-22903-9_19

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