Next-Generation Novel Noninvasive Cancer Molecular Diagnostics Platforms Beyond Tissues

In recent years, there has been a revolutionary expansion in technologic advances in cancer medicine. For decades, cancer diagnostics has been predominantly dependent on direct tumor tissue biopsy for histologic and pathologic analysis. Modern state-of-the-art next-generation DNA sequencing and genomics bioinformatics analysis have brought forth a new paradigm shift in recent years from microscopic levels of histologic diagnostics to molecular genomics levels of cancer molecular diagnostics. Coupled with the revolution in remarkable drug development innovation and efficiency in the new era of small molecule chemistry and therapeutics, these exciting new trends engendered the birth of genomics-guided personalized cancer therapy, with examples of inhibitors adopted in the treatment of EGFR-mutant,1 and ALK-fusion lung cancer,2 and BRAF-mutant melanoma,3 among others. Nonetheless, with the current widespread clinical applications of genomics-matching personalized cancer therapy, it has also become increasingly evident that the need to obtain a large amount of tumor tissue through invasive tumor-needle or surgical biopsy procedures is self-defeating. The risks and inconvenience of such invasive procedures limit the scope of molecular-genomic profiling achievable in the tissues. This problem is substantially compounded by the arrival of cancer immunotherapies in the last few years, for which the need for diagnostics and predictive biomarkers is paramount. As a result, many research studies have been emphasized in achieving next-generation novel cancer diagnostics beyond the use of tumor tissues obtained from primary or metastatic tumor sites. These include the innovative utility of various body fluids or substrates from different body compartments that allow more noninvasive and low-risk access. In this article, we provide a broad overview of the emerging or well-developed technologic platforms (Fig. 1) for these novel cancer diagnostic applications. FIGURE 1. Novel Noninvasive Cancer Molecular Diagnostics Platforms Beyond Tissues Abbreviations: CTC, circulating tumor cell; cfDNA, cell-free DNA; VOC, volatile organic compound; CSF, cerebral spinal fluid. LIQUID BIOPSY Section: ChooseTop of pageAbstractLIQUID BIOPSY <