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(American Journal of Pathology. 2001;158:1843-1850.)
© 2001 American Society for Investigative Pathology

Regular Articles

Novel Genomic Imbalances in B-Cell Splenic Marginal Zone Lymphomas Revealed by Comparative Genomic Hybridization and Cytogenetics

Jesús María Hernández^*, Juan Luis García^*, Norma Carmen Gutiérrez^*, Manuela Mollejo, José Angel Martínez-Climent, Teresa Flores^*, María Belén González^*, Miguel Angel Piris and Jesús F. San Miguel^*

From the Servicio de Hematología,^*
Hospital Universitario and Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Salamanca; the Servicio de Anatomía Patológica,
Hospital Virgen de la Salud, Toledo; and the Servicio de Hematología y Oncología Médica,
Hospital Clínico Universitario, Valencia, Spain

Splenic marginal zone lymphoma (SMZL) has recently been recognized in the World Health Organization classification of hematological diseases as distinct type of non-Hodgkin’s lymphoma. In contrast to the well-established chromosomal changes associated with other B-cell non-Hodgkin’s lymphoma, few genetic alterations have been found associated with SMZL. The aim of our study was to analyze by comparative genomic hybridization (CGH) the chromosomal imbalances in 29 patients with SMZL and to correlate these findings with clinical and biological characteristics and patient outcome. In 21 cases, cytogenetic studies were simultaneously performed. Most of the patients (83%) displayed genomic imbalances. A total of 111 DNA copy number changes were detected with a median of four abnormalities per case (range, 1 to 12). Gains (n = 92) were more frequent than losses (n = 16), while three high-level amplifications (3q26-q29, 5p11-p15, and 17q22-q25) were observed. The most frequent gains involved 3q (31%), 5q (28%), 12q and 20q (24% each), 9q (21%), and 4q (17%). Losses were observed in 7q (14%) and 17p (10%). SMZL patients with genetic losses had a shorter survival than the remaining SMZL patients (P < 0.05). In summary, chromosomal imbalances in regions 3q, 4q, 5q, 7q, 9q, 12q, and 20q have been detected by CGH in SMZL. Patients with SMZL displaying genetic losses by CGH had a short survival.

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