Circulating Tumor DNA in Lymphoma

Recent advances have been made in circulating tumor DNA (ctDNA), the method to minimally invasive detect lymphoma sensitively with tumor-derived DNA in the blood of patients with lymphomas. This article discusses these various methods of ctDNA detection and the clinical context in which they have been applied to for a variety of lymphoma subtypes.

ctDNA has been applied to a variety of subtypes of lymphoma and has been used in the context of genotyping somatic mutations and classification of disease, monitoring of response during treatment, detecting minimal residual disease even with radiographic remission, and predicting relapse and long-term survival outcomes. There are a variety of techniques used to measure ctDNA including digital polymerase chain reaction and next-generation sequencing techniques including high-throughput variable-diversity-joining rearrangement sequencing, high-throughput sequencing of somatic mutations, and Cancer Personalized Profiling by deep sequencing. While the greatest data has been generated in diffuse large B cell lymphoma, there have been studies utilizing application of ctDNA in follicular lymphoma, mantle cell lymphoma, Hodgkin's lymphoma, peripheral T cell lymphoma, and primary CNS lymphoma among others. ctDNA is an emerging biomarker in lymphoma that can minimally invasively provide further genotypic information, diagnostic clarification, and treatment prognostication by detection of minimal residual disease even without radiographic evidence of disease. Future studies are needed to standardize the use of ctDNA and translate its use clinically for the management of lymphoma patients.