Droplet digital polymerase chain reaction for the assessment of disease burden in hairy cell leukemia.

ABSTRACT: BRAF^V600E mutation is the pathogenic driver of hairy cell leukemia (HCL) found in the vast majority of cases both at onset and during recurrences. The identification of the mutated allele in blood and marrow correlates with the presence of neoplastic cells and can be considered a marker of active disease. Likewise, the absence of the mutation after treatment may indicate a state of deep response. The BRAF^V600E burden was measured by droplet digital polymerase chain reaction (ddPCR) and expressed as fractional abundance in 35 HCL patients at different stages of disease (onset, relapse, complete response [CR] after treatment, long-term remission) in peripheral blood and/or bone marrow (when available). Mean values of fractional abundance for patients at diagnosis, relap

SUBMITTER: Broccoli A 

PROVIDER: S-EPMC9291464 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature