Hyperdiploidy as a rare event that accompanies poor prognosis markers in CLL

The presence of chromosomal gains other than trisomy 12 in chronic lymphocytic leukaemia (CLL) is unusual. However, some patients may show gains on several chromosomes simultaneously suggesting a hyperdiploid karyotype. Objective: The objective of this study was to analyse by FISH the frequency and prognostic impact of hyperdiploidy in CLL. Method: A review of 1359 consecutive cases diagnosed with CLL referred for FISH analysis to a unique institution was carried out. Hyperdiploidy was considered when a gain of at least three of the five FISH probes used was observed. Results: Seven cases (0.51%) with hyperdiploidy were found, confirming that it is a rare event in this disease. Although most patients presented with early Binet stages at diagnosis, six of seven (86%) shortly progressed. The median of time to the first therapy (TTFT) and overall survival (OS) for the patients with hyperdiploidy were short (1.4 months and 20 months, respectively). Moreover, comparing them with a control group of patients (non-hyperdiploid) with completed follow-up data, TTFT and OS of the patients with hyperdiploidy were significantly shorter than the control group. Conclusion: The presence of hyperdiploidy is uncommon and probably associated with poor prognostic markers in CLL.This work was supported by grants from the Spanish Fondo de Investigaciones Sanitarias FIS 09/01543, PI12/00281 and PI15/01471, Instituto de Salud Carlos III (ISCIII), European Regional Development Fund (ERDF) ‘Una manera de hacer Europa’, Proyectos de Investigación del SACYL 355/A/09, GRS/1172/A15, COST Action EuGESMA (BM0801), Fundación Manuel Solórzano, Obra Social Banca Cívica (Caja Burgos), Fundación Española de Hematología y Hemoterapia (FEHH), by grants (RD12/0036/0069 and RD12/0036/0044) from Red Temática de Investigación Cooperativa en Cancer (RTICC), Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness and European Regional Development Fund (ERDF) ‘Una manera de hacer Europa’ (CEI 2010-1-0010) and the IRON-II collaborative network. The research leading to these results has received funding from the European Union Seventh Framework Programme [FP7/2007-2013] under grant agreement n°306242-NGS-PTL. Maria Hernandez-Sanchez is fully supported by an Ayuda Predoctoral de la Junta de Castilla y Leon from the Fondo Social Europeo (JCYL-EDU/346/2013 Ph.D. scholarship). Ana Eugenia Rodriıguez-Vicente is supported by a grant from Fundacion Ramon Areces.Peer Reviewe