Role of Circulating Tumor DNA in Hematological Malignancy

SIMPLE SUMMARY: In recent years, next-generation sequencing has become a major tool in the management of cancer, advancing the diagnosis and treatment of hematological malignancies. However, the gold standard for cancer diagnosis and monitoring still involves invasive and painful procedures, such as tissue and bone marrow biopsies. These procedures involve physical risks, and a single biopsy cannot account for the spatial heterogeneity of tumors. The validity of circulating tumor DNA-mediated liquid biopsies has been receiving increasing attention. This review provides a brief overview of research on liquid biopsy in hematological malignancies, with special emphasis on circulating tumor DNA technologies, which may, in the near future, guide real-world decision making by hematologists. ABSTRACT: With the recent advances in noninvasive approaches for cancer diagnosis and surveillance, the term “liquid biopsy” has become more familiar to clinicians, including hematologists. Liquid biopsy provides a variety of clinically useful genetic data. In this era of personalized medicine, genetic information is critical to early diagnosis, aiding risk stratification, directing therapeutic options, and monitoring disease relapse. The validity of circulating tumor DNA (ctDNA)-mediated liquid biopsies has received increasing attention. This review summarizes the current knowledge of liquid biopsy ctDNA in hematological malignancies, focusing on the feasibility, limitations, and key areas of clinical application. We also highlight recent advances in the minimal residual disease monitoring of leukemia using ctDNA. This article will be useful to those involved in the clinical practice of hematopoietic oncology.