Additional trisomies amongst patients with chronic lymphocytic leukemia carrying trisomy 12: the accompanying chromosome makes a difference

摘要

Recurrent cytogenetic abnormalities in chronic lymphocytic leukemia (CLL), namely deletions of chromosomes 11q, 13q, 17p and trisomy 12 (+12), define subgroups of patients with different clinical behavior and response to treatment.~(~(1)) We and others previously reported a minor proportion of CLL cases with co-existing trisomies of chromosomes 12 and 19 who share specific clinico-biological characteristics.~(~(2)~(4)) However, since the cohort was small, no definitive conclusions could be drawn. Here, we analyzed a large, multi-institutional series. We confirm and significantly extend previous observations through the identification of subgroups of +12 CLL cases harboring particular concurrent trisomies demonstrating distinctive clinico-biological profiles. We analyzed an unselected cohort of 4486 CLL patients with available classic cytogenetic (n=4285) or high-density 250K single nucleotide polymorphism (SNP)-array (n=201) data. We identified 712 cases (16% of the cohort) carrying +12.~(~(5)) Median time from diagnosis to cytogenetic/SNP analysis was 1.5 months (range 0194); the majority of cases included in survival analysis were untreated prior to testing (94%). The study was approved by the local Ethics Review Committees. Details of the study cohort and the methodologies used are provided in the Online Supplementary Appendix .Of the 712 +12 CLL cases, 86 [12% (or 2% of the entire cohort)] harbored multiple trisomies; 68 of these 86 cases [78% (or 1.5% of the entire cohort)] had co-existing +19 (+12+19 CLL), while the remaining 18 of 86 cases [22% (or 0.5% of the entire cohort)] were negative for +19 and instead carried other co-existing extra chromosome(s) (+12,+other-non19 CLL) ( Online Supplementary Table S1 and Figure S1 ).