High-throughput sequencing for noninvasive disease detection in hematologic malignancies.

Area of Science:

• Hematology
• Oncology
• Molecular Diagnostics

Background:

• Minimal residual disease (MRD) monitoring is crucial for personalized management of hematologic malignancies.
• Increased survival necessitates sensitive tumor assessment for treatment decisions.
• Circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) are valuable noninvasive biomarkers.

Purpose of the Study:

• To review techniques for noninvasive molecular disease detection in myeloid and lymphoid neoplasms.
• To highlight the role of high-throughput sequencing (HTS) in MRD assessment.
• To discuss the future potential of HTS-based assays for noninvasive cancer monitoring.

Main Methods:

• Review of current literature on noninvasive MRD detection methods.
• Focus on circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA).
• Emphasis on high-throughput sequencing (HTS) technologies.

Main Results:

• HTS-based approaches offer high sensitivity and specificity for MRD detection.
• These methods can simultaneously identify multiple genetic markers.
• Reduced costs and increased applicability of advanced MRD detection techniques.

Conclusions:

• Noninvasive molecular monitoring of MRD is advancing personalized cancer care.
• HTS assays are becoming increasingly important for sensitive and comprehensive disease assessment.
• Future applications of HTS hold promise for improved patient outcomes in hematologic neoplasms.