Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome

• Published in: Blood Vol. 117; no. 5; pp. 1595 - 1604
• Main Authors: Rinaldi, Andrea, Mian, Michael, Chigrinova, Ekaterina, Arcaini, Luca, Bhagat, Govind, Novak, Urban, Rancoita, Paola M.V., De Campos, Cassio P., Forconi, Francesco, Gascoyne, Randy D., Facchetti, Fabio, Ponzoni, Maurilio, Govi, Silvia, Ferreri, Andrés J.M., Mollejo, Manuela, Piris, Miguel A., Baldini, Luca, Soulier, Jean, Thieblemont, Catherine, Canzonieri, Vincenzo, Gattei, Valter, Marasca, Roberto, Franceschetti, Silvia, Gaidano, Gianluca, Tucci, Alessandra, Uccella, Silvia, Tibiletti, Maria Grazia, Dirnhofer, Stephan, Tripodo, Claudio, Doglioni, Claudio, Dalla Favera, Riccardo, Cavalli, Franco, Zucca, Emanuele, Kwee, Ivo, Bertoni, Francesco
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 03.02.2011; Americain Society of Hematology
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; Chromosome Aberrations; Comparative Genomic Hybridization; DNA Fingerprinting; Female; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Genome, Human; Hematologic and hematopoietic diseases; Humans; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Lymphoma, B-Cell, Marginal Zone - classification; Lymphoma, B-Cell, Marginal Zone - genetics; Lymphoma, B-Cell, Marginal Zone - pathology; Male; Medical sciences; Middle Aged; Polymorphism, Single Nucleotide - genetics; Prognosis; Splenic Neoplasms - classification; Splenic Neoplasms - genetics; Splenic Neoplasms - pathology; Young Adult; Chronic; Prognosis; Hematology; Lymphoproliferative syndrome; DNA; Marginal zone lymphoma; Malignant hemopathy; Lesion; Genome; Subtype; Cancer
• ISSN: 0006-4971; 1528-0020; 1528-0020
• DOI: 10.1182/blood-2010-01-264275

Marginal zone B-cell lymphomas (MZLs) have been divided into 3 distinct subtypes (extranodal MZLs of mucosa-associated lymphoid tissue [MALT] type, nodal MZLs, and splenic MZLs). Nevertheless, the relationship between the subtypes is still unclear. We performed a comprehensive analysis of genomic DNA copy number changes in a very large series of MZL cases with the aim of addressing this question. Samples from 218 MZL patients (25 nodal, 57 MALT, 134 splenic, and 2 not better specified MZLs) were analyzed with the Affymetrix Human Mapping 250K SNP arrays, and the data combined with matched gene expression in 33 of 218 cases. MALT lymphoma presented significantly more frequently gains at 3p, 6p, 18p, and del(6q23) (TNFAIP3/A20), whereas splenic MZLs was associated with del(7q31), del(8p). Nodal MZLs did not show statistically significant differences compared with MALT lymphoma while lacking the splenic MZLs-related 7q losses. Gains of 3q and 18q were common to all 3 subtypes. del(8p) was often present together with del(17p) (TP53). Although del(17p) did not determine a worse outcome and del(8p) was only of borderline significance, the presence of both deletions had a highly significant negative impact on the outcome of splenic MZLs.