Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR
Abstract
There are more than 90 different partner genes for lysine methyl-transferase 2A ( KMT2A ) rearrangements. 1 KMT2A::Matrin-3 ( MATR3 ) fusion has been reported in a patient with acute lymphoblastic leukemia (ALL) in a large cohort study 2 ; however, the patient also had MEF2D::DAZAP1 fusion, and the details of KMT2A::MATR3 fusion and clinical features were unavailable. In the present study, we charac-terized a patient with ALL and KMT2A::MATR3 fusion. Furthermore, minimal residual disease (MRD) monitoring using nanoplate digital polymerase chain reaction (PCR) showed negative MRD at the end of re-induction therapy following relapse. A 7-year-old male presented with a pale complexion and chest pain. The complete blood analysis showed that his white blood cell count was14,010/ µ l,with56%blastcells.Thebonemarrowcontained92.7% lymphoblasts. Flow cytometry (FCM) showed that the blast cells were positive for CD19, cytoplasmic CD79a, and CD24, while negative for NG2. The patient was diagnosed with precursor-B ALL. Moreover, G-banding of bone marrow samples showed 47,XY,t(5;11)(q31;q23.3) (Figure 1A). Further, fluorescence in situ hybridization showed a split signal of KMT2A in 98% cells (Figure 1B). The patient presented no extramedullary disease in the central nervous system nor other regions. The patient was treated with the standard chemotherapy
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Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence.
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