Jurnal Internasional Kompleksitas sitogenetik pada leukemia limfositik kronis: definisi, hubungan, dan dampak klinis
Recent evidence shows that complex karyotypes (CK) are defined by the presence of ≥3 chromosomal aberrations (structural and / or numerical) identified using chromosome band (CBA) analysis which may be relevant for treatment decision making in chronic lymphocytic leukemia. (CLL). However, there are many challenges to the routine clinical application of CBA. In a retrospective study of 5290 patients with available CBA data, we explored the clinical-clinical association and clinical impact of CK in CLL. We found that patients with ainan5 abnormalities, defined as high CK, showed uniformly bleak clinical results, regardless of clinical stage, TP53 deviations (chromosome removal 17p and / or TP53 mutations TP53 abs]), and the expression of heavily programmed immunoglobulin genes (M-CLL) or those not mutated. Thus, they contrast with the cases of CK with 3 or 4 deviations (low CK and intermediate CK, respectively) that follow aggressive disease courses only in the presence of TP53 abs. At the other end of the spectrum, patients with CK and + 12, + 19 display very slow profiles. Building on CK, TP53 abs, and the status of somatic hypermutation of genes with heavy immunoglobulin variables, we propose a new hierarchical model in which patients with high CK show the worst prognosis, whereas those with CLL mutate CK deficiency or TP53  abs, as well as CK with + 12, + 19, indicating the longest overall survival. Thus, CK may not be axiomatic considered unfavorable in CLL, representing a heterogeneous group with clinical behavioral variables. High CK with ≥5 chromosomal aberrations appear as adverse prognostics, independent of other biomarkers. Prospective clinical validation is needed before finally including high CK in CLL risk stratification.