title: Splenic marginal zone lymphomas presenting with splenomegaly and typical immunophenotype are characterized by allelic loss in 7q31-32.
abstract: Splenic marginal zone lymphoma (SMZL) is a rare non-Hodgkin's lymphoma that recently has been recognized as an entity. The first goal of this study was to identify potential chromosomal aberrations in this entity by cytogenetic analysis and comparative genomic hybridization (CGH). The second goal was to assess the frequency of 7q31-32 allelic imbalances in SMZL with primary involvement of the spleen and the typical immunophenotype (IgM+; IgD(dim); and CD5-, CD10-, and CD23-). We applied CGH and cytogenetics to 13 cases of SMZL with primary splenic involvement. By CGH, we found DNA copy number changes in 11 of 13 cases. Overall chromosomal gains were more frequent than chromosomal losses. Gains were most frequently detected for chromosome X, chromosome 3, and chromosome 18. Losses commonly involved chromosome 7 and chromosome 6.CGH and cytogenetic analysis showed a deletion in chromosome 7q31 in 4 cases. Loss of heterozygosity (LOH) analysis using three microsatellite markers located at 7q31 revealed LOH in 9 cases. Remarkably, 2 of the 4 cases that lacked a 7q31 deletion had an atypical immunophenotype because they were partially CD23 positive. The other 2 cases were not informative. The findings indicate that SMZL with primary splenic presentation and the typical IgM+, IgDdim, CD5-, CD10-, CD23- immunophenotype is characterized by the presence of deletions in chromosome 7q31-32.
authors.affiliation: Departments of Pathology and Laboratory Medicine, University Medical Center Groningen, The Netherlands.
authors.forename: Ronald
authors.initials: R
authors.lastname: Boonstra
authors.forename: Anneke
authors.initials: A
authors.lastname: Bosga-Bouwer
authors.forename: Gustaaf W
authors.initials: GW
authors.lastname: van Imhoff
authors.forename: Vanessa
authors.initials: V
authors.lastname: Krause
authors.forename: Martin
authors.initials: M
authors.lastname: Palmer
authors.forename: Robert W
authors.initials: RW
authors.lastname: Coupland
authors.forename: Laith
authors.initials: L
authors.lastname: Dabbagh
authors.forename: Eva
authors.initials: E
authors.lastname: van den Berg
authors.forename: Anke
authors.initials: A
authors.lastname: van den Berg
authors.forename: Sibrand
authors.initials: S
authors.lastname: Poppema
mesh_terms: D000368:Aged; D018956:CD5 Antigens / Q000032:analysis; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D007072:Immunoglobulin D / Q000032:analysis; D007075:Immunoglobulin M / Q000032:analysis; D016130:Immunophenotyping; D007621:Karyotyping; D019656:Loss of Heterozygosity; D008223:Lymphoma / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009367:Neoplasm Staging; D015260:Neprilysin / Q000032:analysis; D009693:Nucleic Acid Hybridization / Q000379:methods; D017455:Receptors, IgE / Q000032:analysis; D013160:Splenic Neoplasms / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D013163:Splenomegaly / Q000473:pathology*
chemical_list: D018956:CD5 Antigens; D007072:Immunoglobulin D; D007075:Immunoglobulin M; D017455:Receptors, IgE; D015260:Neprilysin