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Molecular Techniques/Molecular Diagnostics for Surgical Pathologists: An Overview

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Molecular Surgical Pathology

Abstract

Histopathologic analysis remains, for now, the most sophisticated assay of gene expression. Molecular diagnostics has focused on the detection of genomic mutations and, to a much lesser extent, translocations. Genomics has already advanced ‘Precision Medicine’ with major discoveries in cancer detection, cancer classification, and cancer treatment. Continuing improvements in sequencing technology have enabled comprehensive analysis of genomes, transcriptomes, and methylomes, even in single cells in situ and in circulating cell-free nucleic acids. The variation in transcriptomes among cells currently considered identical will fuel ‘lumper’ versus ‘splitter’ debates. The ubiquity of mutations, including putative oncogenic mutations, challenges our understanding, while providing openings for further insight. For some time to come, our reach will exceed our grasp. These cutting-edge assays are NOT about to replace the microtome, but some can be expected to become more robust, and affordable, with standardized bioinformatic analysis.

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Joseph, L., Raca, G., Stringer, K.F. (2023). Molecular Techniques/Molecular Diagnostics for Surgical Pathologists: An Overview. In: Cheng, L., Netto, G.J., Eble, J.N. (eds) Molecular Surgical Pathology. Springer, Cham. https://doi.org/10.1007/978-3-031-35118-1_1

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