Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Chronic Lymphocytic Leukaemia (<jats:styled-content style="fixed-case">CLL</jats:styled-content>) is a heterogeneous disease with a clinical course dependent on cytogenetic features. However, in 15–20% of cases both chromosome banding and fluorescence <jats:italic>in situ</jats:italic> hybridisation analyses do not show any kind of abnormality. With the aim to identify dependable molecular prognostic factors in this subgroup, we performed a comprehensive analysis on 171 patients including genomic arrays (comparative genomic hybridisation and single nucleotide polymorphism), immunoglobulin heavy chain variable region genes (<jats:styled-content style="fixed-case">IGHV</jats:styled-content>) status, flow cytometry and targeted sequencing. Genomic arrays detected 73 aberrations in 39 patients (23%). Most frequently, patients had 1 aberration (25/171; 15%), while 14 patients (8%) had at least 2 aberrations. <jats:styled-content style="fixed-case">IGHV</jats:styled-content> status was unmutated in 53/171 (31%) patients. <jats:italic><jats:styled-content style="fixed-case">SF</jats:styled-content>3B1</jats:italic> was the most frequently mutated gene (26/171 patients; 15%), followed by <jats:italic><jats:styled-content style="fixed-case">NOTCH</jats:styled-content>1</jats:italic> (15/171; 9%). At univariate analysis, an adverse impact on time to treatment (<jats:styled-content style="fixed-case">TTT</jats:styled-content>) was evident for <jats:italic><jats:styled-content style="fixed-case">SF</jats:styled-content>3B1</jats:italic> mutations, higher white blood cell count, higher <jats:styled-content style="fixed-case">CLL</jats:styled-content> cells percentage by flow cytometry, <jats:styled-content style="fixed-case">CD</jats:styled-content>38 positivity, <jats:styled-content style="fixed-case">IGHV</jats:styled-content> unmutated status and at least 2 genomic array abnormalities. Of these, <jats:italic><jats:styled-content style="fixed-case">SF</jats:styled-content>3B1</jats:italic> mutations, <jats:styled-content style="fixed-case">CLL</jats:styled-content> cells percentage, <jats:styled-content style="fixed-case">IGHV</jats:styled-content> unmutated status and number of genomic array aberrations maintained their impact in multivariate analysis. In conclusion, by integrating genomic and molecular data, we identified patients at higher risk for treatment need.</jats:p>