Diagnostic utility of targeted next-generation sequencing in problematic cases

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Targeted next-generation sequencing (NGS) is standard for cancer prognosis and prediction.
• Expanding knowledge of cancer biology reveals NGS's diagnostic potential in complex cases.

Observation:

• Three clinical cases utilized targeted NGS on formalin-fixed, paraffin-embedded tumor DNA.
• NGS identified known and novel variants, including SNVs, indels, CNAs, and translocations.

Findings:

• Case 1: NGS was vital for diagnosing and staging a patient with multiple tumors of the same histologic type.
• Case 2: NGS clarified the tumor type in a multi-organ mass, guiding chemotherapy decisions.
• Case 3: NGS identified targeted therapeutic susceptibility, aiding in clarifying the initial histologic diagnosis.

Implications:

• Targeted NGS provides critical diagnostic and staging information in challenging cancer scenarios.
• This technique enhances precision in cancer diagnosis, potentially improving patient management and treatment selection.
• NGS facilitates a deeper understanding of tumor heterogeneity and aids in personalized cancer therapy.