Massive parallel sequencing of solid tumours - challenges and opportunities for pathologists

Area of Science:

• Pathology
• Genomics
• Oncology

Background:

• Histopathology traditionally relies on morphology and limited molecular tests (IHC, FISH, PCR).
• The human genome project and high-throughput technologies enabled massive parallel sequencing (MPS).
• MPS, also known as next-generation sequencing (NGS), provides comprehensive genomic data.

Purpose of the Study:

• To review the current and future applications of MPS in clinical histopathology.
• To focus on the role of MPS in analyzing somatic mutations in solid tumors.
• To encourage histopathologists to assume leadership in MPS implementation.

Main Methods:

• Review of massive parallel sequencing (MPS) technologies and their application in pathology.
• Analysis of MPS for identifying mutations/variants and RNA expression profiles.
• Focus on somatic mutations within solid tumors.

Main Results:

• MPS is increasingly utilized for diagnosis, prognostication, and targeted therapy stratification.
• MPS presents a paradigm shift from morphology-based pathology.
• Histopathologists are well-positioned to integrate MPS into solid tumor diagnostics.

Conclusions:

• MPS is a transformative technology for clinical patient management.
• Histopathologists must embrace MPS to maintain expertise in solid tumor pathology.
• Leadership from histopathologists is crucial for advancing genomic applications in cancer care.