[Routine high-throughput targeted sequencing of lymphoproliferative diseases : Clinical utility and challenges].

Area of Science:

• Hematopathology
• Molecular Diagnostics
• Oncology

Background:

• Next-generation sequencing (NGS) is standard in many cancers but not yet routine in hematopathology, particularly for lymphomas.
• Limited application of mutation analysis hinders precise diagnosis and personalized treatment in lymphoma cases.

Purpose of the Study:

• To describe the experience and process of implementing a research-developed lymphoma NGS panel into routine diagnostic practice.
• To evaluate the utility of the NGS panel in guiding diagnosis and identifying therapeutic targets in lymphoma patients.

Main Methods:

• Adaptation and validation of a lymphoma-focused NGS panel for an accredited diagnostic setting.
• Comprehensive analysis of 80 lymphoma investigations using the NGS panel, including detailed case studies.

Main Results:

• The implemented NGS panel successfully guided correct diagnoses in complex cases.
• Identification of potential therapeutic targets for tailored patient treatment strategies was achieved.
• The panel proved valuable in differential diagnostic challenges and for oncologists' treatment planning.

Conclusions:

• A dedicated NGS panel offers a valuable tool for lymphoma diagnostics, especially in uncertain cases.
• NGS implementation can improve diagnostic accuracy and facilitate personalized medicine approaches in hematopathology.
• While not universally required, NGS provides crucial insights for difficult lymphoma cases and targeted therapy selection.