Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes.
Although i(17q) [i(17q)] is frequently detected in hematological malignancies, few studies have assessed its clinical role in chronic lymphocytic leukemia (CLL). We recruited a cohort of 22 CLL patients with i(17q) and described their biological characteristics, mutational status of the genes TP53 and IGHV and genomic complexity. Furthermore, we analyzed the impact of the type of cytogenetic anomaly bearing the TP53 defect on the outcome of CLL patients and compared the progression-free survival (PFS) and overall survival (OS) of i(17q) cases with those of a group of 38 CLL patients harboring other 17p aberrations. We detected IGHV somatic hypermutation in all assessed patients, and TP53 mutations were observed in 71.4% of the cases. Patients with i(17q) were more commonly associated with complex karyotypes (CK) and tended to have a poorer OS than patients with other anomalies affecting 17p13 (median OS, 44 vs 120 months, P = 0.084). Regarding chromosomal alterations, significant differences in the median OS were found among groups (P = 0.044). In conclusion, our findings provide new insights regarding i(17q) in CLL and show a subgroup with adverse prognostic features.
['Collado|Rosa|R|', 'Puiggros|Anna|A|', 'López-Guerrero|José Antonio|JA|', 'Calasanz|Ma José|MJ|', 'Larráyoz|Ma José|MJ|', 'Ivars|David|D|', 'García-Casado|Zaida|Z|', 'Abella|Eugènia|E|', 'Orero|Ma Teresa|MT|', 'Talavera|Elisabet|E|', 'Oliveira|Ana Carla|AC|', 'Hernández-Rivas|Jesús Ma|JM|', 'Hernández-Sánchez|María|M|', 'Luño|Elisa|E|', 'Valiente|Alberto|A|', 'Grau|Javier|J|', 'Portal|Inmaculada|I|', 'Gardella|Santiago|S|', 'Salgado|Anna Camino|AC|', 'Giménez|Ma Teresa|MT|', 'Ardanaz|Ma Teresa|MT|', 'Campeny|Andrea|A|', 'Hernández|José Julio|JJ|', 'Álvarez|Sara|S|', 'Espinet|Blanca|B|', 'Carbonell|Félix|F|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D002886:Chromosomes, Human, Pair 17 D005260:Female D016158:Genes, p53 D006801:Humans D018404:Isochromosomes D059785:Karyotype D015451:Leukemia, Lymphocytic, Chronic, B-Cell D008297:Male D008875:Middle Aged D009154:Mutation
Chronic lymphocytic leukemia Isochromosome 17q TP53 Complex karyotype IGHV Survival