Next generation sequencing in hematolymphoid neoplasia

Area of Science:

• Genomics and Molecular Diagnostics
• Hematopathology
• Clinical Laboratory Science

Background:

• Genomic alterations in hematolymphoid neoplasms have significant diagnostic, therapeutic, and prognostic implications.
• Individual gene testing for these alterations is becoming impractical and costly due to the increasing number of identified targets.
• Multiplex testing platforms, particularly next-generation sequencing (NGS), are emerging as essential tools in clinical diagnostics.

Purpose of the Study:

• To discuss the current clinical applications of next-generation sequencing (NGS) in hematolymphoid neoplasms.
• To provide an overview of sequencing instruments and target enrichment methods used in diagnostic laboratories.
• To highlight clinically relevant aspects of analyzing and reporting NGS results.

Main Methods:

• Focuses on the practical application of NGS in clinical diagnostic laboratories, not a technological review.
• Discusses two major families of sequencing instruments (Illumina and Thermo Fisher).
• Explains three common target enrichment methods used in NGS workflows.

Main Results:

• NGS platforms are increasingly adopted in routine clinical practice for hematolymphoid neoplasms.
• The versatility of NGS allows for multiplex testing, addressing the growing need for comprehensive genomic profiling.
• WHO diagnostic criteria now incorporate molecular findings, further driving NGS adoption.

Conclusions:

• NGS is a crucial technology for modern clinical diagnostic laboratories analyzing hematolymphoid neoplasms.
• Understanding NGS methodologies, including instrumentation and target enrichment, is vital for effective implementation.
• Standardized analysis and reporting of NGS results are essential for clinical utility.