Literature DB >> 34170385

[Next generation sequencing in histopathology : Applications and methodological challenges].

Ulrich Lehmann1, Andreas Jung2.   

Abstract

The enormous increase in sequencing capacity due to the development of next generation sequencing technologies opens up new opportunities in the fields of histopathology, research, and diagnostics, but also poses huge challenges.The identification of genomic aberrations (point mutations, small insertions and deletions, fusion transcripts, and tumor mutation burden (TMB)) have already become a reliable part of routine molecular diagnostics. This will be supplemented by additional applications, namely gene amplifications, microsatellite instability, genomic signatures like homologous recombination deficiency (HRD), mRNA expression patterns, B‑ and T‑cell clonality, and DNA methylation. Challenges in preanalytics and the evaluation of assay sensitivity and specificity as well as proper curation of identified aberrations, which requires a new type of specialist, are presented and discussed.

Entities:  

Keywords:  DNA modifications; Gene amplification; High-throughput nucleotide sequencing; Mutation signatures; mRNA expression patterns

Year:  2021        PMID: 34170385     DOI: 10.1007/s00292-021-00953-6

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  3 in total

Review 1.  DNA Modification Readers and Writers and Their Interplay.

Authors:  Cathia Rausch; Florian D Hastert; M Cristina Cardoso
Journal:  J Mol Biol       Date:  2019-12-20       Impact factor: 5.469

Review 2.  MGMT analysis at DNA, RNA and protein levels in glioblastoma tissue.

Authors:  Matthias Preusser
Journal:  Histol Histopathol       Date:  2009-04       Impact factor: 2.303

Review 3.  Liquid Biopsy in Tumor Genetic Diagnosis.

Authors:  Andreas Jung; Thomas Kirchner
Journal:  Dtsch Arztebl Int       Date:  2018-03-09       Impact factor: 5.594

  3 in total

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