Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients

Author:

Rigolin Gian Matteo1ORCID,Traversa Alice2,Caputo Viviana2,Del Giudice Ilaria3,Bardi Antonella1,Saccenti Elena1,Raponi Sara3ORCID,Ilari Caterina3,Cafforio Luciana34,Giovannetti Agnese5,Pizzuti Antonio2,Guarini Anna6,Foà Robin3,Cuneo Antonio1

Affiliation:

1. Hematology Section St. Anna University Hospital Ferrara Italy

2. Department of Experimental Medicine Sapienza University Rome Italy

3. Hematology, Department of Translational and Precision Medicine Sapienza University Rome Italy

4. GenomeUp S.r.l. Rome Italy

5. Clinical Genomics Unit Fondazione IRCCS Casa Sollievo della Sofferenza S. Giovanni Rotondo Italy

6. Department of Molecular Medicine Sapienza University Rome Italy

Abstract

SummaryWe explored the relevance of genomic microarrays (GM) in the refinement of prognosis in newly diagnosed low‐risk chronic lymphocytic leukaemia (CLL) patients as defined by isolated del(13q) or no lesions by a standard 4 probe fluorescence in situ hybridization (FISH) analysis. Compared to FISH, additional lesions were detected by GM in 27 of the 119 patients (22.7%). The concordance rate between FISH and GM was 87.4%. Discordant results between cytogenetic banding analysis (CBA) and GM were observed in 45/119 cases (37.8%) and were mainly due to the intrinsic characteristics of each technique. The presence of additional lesions by GM was associated with age > 65 years (p = 0.047), advanced Binet stage (p = 0.001), CLL‐IPI score (p < 0.001), a complex karyotype (p = 0.004) and a worse time‐to‐first treatment in multivariate analysis (p = 0.009). Additional lesions by GM were also significantly associated with a worse time‐to‐first treatment in the subset of patients with wild‐type TP53 and mutated IGHV (p = 0.025). In CLL patients with low‐risk features, the presence of additional lesions identified by GM helps to identify a subset of patients with a worse outcome that could be proposed for a risk‐adapted follow‐up and for early treatment including targeted agents within clinical trials.

Funder

Division of Antarctic Infrastructure and Logistics

Ministero dell’Istruzione, dell’Università e della Ricerca

Università degli Studi di Ferrara

Publisher

Wiley

Subject

Hematology

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