Liquid biopsy in hematological malignancies: current and future applications.

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Cancer mutational profiling is vital for managing hematological malignancies.
• Traditional tissue biopsies may miss unique genetic lesions in different tumor compartments.
• Liquid biopsy offers a less invasive alternative for comprehensive tumor analysis.

Purpose of the Study:

• To review methods for circulating tumor DNA (ctDNA) analysis.
• To describe the application of liquid biopsy in hematological malignancies.
• To highlight the potential of ctDNA in guiding cancer treatment.

Main Methods:

• Review of current literature on ctDNA analysis techniques.
• Analysis of ctDNA in diffuse large B-cell lymphoma (DLBCL) and Hodgkin lymphoma (HL).
• Exploration of ctDNA applications in myeloid neoplasms.

Main Results:

• Liquid biopsy ctDNA analysis mirrors tissue biopsy mutational profiles in DLBCL and HL.
• ctDNA analysis can detect mutations absent in tissue biopsies.
• Changes in ctDNA levels post-chemotherapy predict patient outcomes.
• Promising results observed in myeloid neoplasms.

Conclusions:

• Liquid biopsy is a powerful tool for genotyping and monitoring hematological malignancies.
• ctDNA analysis aids in treatment stratification and decision-making.
• Future applications include ctDNA fragmentation and epigenetic pattern analysis.