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Feasibility of BAALC gene expression for detection of minimal residual disease and risk stratification in normal karyotype acute myeloid leukaemia
Authors:Simone Weber  Torsten Haferlach  Tamara Alpermann  Karolína Perglerová  Susanne Schnittger  Claudia Haferlach  Wolfgang Kern
Affiliation:1. MLL Munich Leukaemia Laboratory, Munich, Germany;2. MLL2 s.r.o., Prague, Czech Republic
Abstract:High BAALC gene expression has been associated with poor prognosis in cytogenetically normal acute myeloid leukaemia (CN‐AML) and has been suggested as a suitable marker for assessing minimal residual disease (MRD). The purpose of this study was to substantiate these findings by the analysis of a large data set of 632 diagnostic and follow‐up samples in 142 intensively treated CN‐AML patients. Paired diagnostic/relapse samples of 35 patients revealed stable high BAALC expression in 89%, irrespective of a high proportion of clonal evolution found in 49% of these cases. High BAALC expression, both directly after induction chemotherapy and within 3–6 months after induction chemotherapy, correlated significantly with shorter event‐free survival and overall survival. Moreover, 8 of 10 patients displaying high BAALC expression levels after completion of induction therapy as well as 5 of 5 patients exhibiting high BAALC expression levels within 3–6 months after induction chemotherapy experienced relapse with a median of 197 and 101 days, respectively, from sampling to relapse. Thus, BAALC expression‐based MRD detection during therapy may be considered a strategy to identify patients at high risk of relapse.
Keywords:   BAALC     gene expression  minimal residual disease  normal karyotype  acute myeloid leukaemia
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