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.