Tissue biopsy is the current gold standard technique for diagnosis and molecular profiling of lymphomas, but it carries several disadvantages in terms of procedural risks (infectious and haemorrhagic complications, anaesthesiologic risks) and analytic aspects (heterogeneity of tumors, low representation of tumor cells in the tissue). Noninvasive genotyping of B-cell lymphomas through circulating tumor DNA (ctDNA) is emerging as a practical tool to monitor the genetics and course of the disease from diagnosis to eventual relapse.
This review will explore recent advances in the field of liquid biopsy in lymphomas, highlighting their clinical implications.
ctDNA has been recently proposed an alternative source of tumor DNA for genotyping purposes, especially for those samples having low tumor representation or when longitudinal genetic monitoring is limited by the inaccessibility of relapsed tumor tissues. Also, ctDNA has been recently proposed radiation-free tool for the early identification of chemorefractory lymphoma patients.
The detection of ctDNA circulating in the bloodstream of lymphoma patients can inform about the genetics of the disease at diagnosis identifying druggable alterations, detect the onset of mutation of resistance during treatment, anticipate about relapse earlier than standard methods [e.g. PET associated with computed tomography (PET/CT)] during follow-up.
aExperimental hematology, Institute of Oncology Research
bHematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland
Correspondence to Davide Rossi, MD, PhD, Hematology, Oncology Institute of Southern Switzerland and Institute of Oncology Research, 6500 Bellinzona, Switzerland. Tel: +41 91 820 03 62; fax: +41 91 820 03 97; e-mail: firstname.lastname@example.org.