Detection of Minimal Residual Disease in Cerebro-Spinal Fluid of a Patient with Acute Myelogenous Leukemia with t(16 ; 21)(p11 ; q22) Translocation by Reverse Transcriptase-Polymerase Chain Reaction

We describe a patient with acute myelogenous leukemia (AML) with t(16 ; 21)(p11 ; q22) translocation, whose minimal residual disease (MRD) both in cerebrospinal fluid (CSF) and bone marrow (BM) was monitored by reverse transcriptase-polymerase chain reaction (RT-PCR). A TLS/ERG-FUS fusion transcript, which is known to be expressed by t(16 ; 21)(p11 ; q22) translocation, was detectable by RT-PCR both in BM and CSF cells in the first complete remission, suggesting the existence of MRD. The disease relapsed 6 months after its onset and allogeneic peripheral blood stem cell transplantation (PBSCT) was undergone. A TLS/ERG-FUS fusion transcript became rapidly below the detection level after PBSCT. These findings suggest the usefulness of RT-PCR for the detection of MRD in CSF, which contains a limited number of cells, as well as BM.