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Updated: Oct 28, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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A Brief Overview and Update on Major Molecular Genomic Alterations in Solid, Bone and Soft Tissue Tumors, and

Wei Zhang1,2,3, Jinjuan Yao4,2, Minghao Zhong5

  • 1From the Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison (W. Zhang).

Archives of Pathology & Laboratory Medicine
|July 16, 2021
PubMed
Abstract

Insights

Genomic profiling reveals tumor-specific alterations, leading to targeted therapies. Understanding these cancer biomarkers is crucial for accurate diagnosis and effective patient care.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Pathology

Background:

  • Next-generation sequencing (NGS) has advanced comprehensive genomic profiling.
  • This has identified numerous molecular alterations in various tumors.
  • Targeted therapies based on these alterations are now widely used in cancer management.

Purpose of the Study:

  • To provide a molecular genomic update on solid, bone, soft tissue, hematopoietic, and lymphoid tumors.
  • To discuss the clinical applications of these genomic findings.
  • To familiarize pathologists with emerging cancer biomarkers and their diagnostic utility.

Main Methods:

  • Review based on National Comprehensive Cancer Network (NCCN) guidelines.
  • Inclusion of peer-reviewed English literature.

Main Results:

  • Tumor-specific biomarkers and genomic alterations have expanded significantly.
  • Large-scale, high-throughput technologies have driven this expansion.
  • Emerging biomarkers offer value in diagnosis, prognosis, and targeted therapy.

Conclusions:

  • Familiarity with evolving tumor biomarkers aids pathologists in accurate, state-of-the-art diagnoses.
  • Pathologists can become more involved in cancer patient care through biomarker knowledge.
  • Continuous emergence of biomarkers will shape future cancer diagnostics and therapeutics.

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