title: Mucosa-associated lymphoid tissue lymphomas with t(11;18)(q21;q21) and mucosa-associated lymphoid tissue lymphomas with aneuploidy develop along different pathogenetic pathways.
abstract: t(11;18)(q21;q21) and aneuploidy are recurrent chromosomal aberrations in mucosa-associated lymphoid tissue (MALT) lymphomas. To investigate their relationship and clinical significance, we developed a two-color fluorescence in situ hybridization (FISH) technique to detect t(11;18) and aneuploidy in nuclei isolated from paraffin-embedded tissue. Thirty-seven MALT lymphomas (all previously evaluated for t(11;18) by reverse transcriptase-polymerase chain reaction), 1 large cell lymphoma (LCL) arising subsequent to MALT lymphoma, and 16 controls were tested by FISH using the t(11;18) probe set and multiple centromeric probes. t(11;18)(q21;q21) was present by FISH in 11 of 12 polymerase chain reaction-positive MALT lymphomas (92%). The LCL and its clonally identical antecedent MALT lymphoma both showed t(11;18). The LCL had trisomy 12, and a small subset of MALT lymphoma cells had trisomy 3 and/or 12. Only one other MALT lymphoma with t(11;18) showed aneuploidy (trisomy 3) in a small clone, whereas 15 of 25 t(11;18)-negative MALT lymphomas (60%) showed trisomy of chromosomes 18 (n = 12), 3 (n = 8), 7 (n = 2), and/or 11 (n = 1). t(11;18) and aneuploidy are primarily mutually exclusive events, suggesting different pathogenetic pathways in the development of MALT lymphomas. Both t(11;18) and aneuploidy were seen disproportionately in lung, and both were associated with recurrent disease.
authors.affiliation: Division of Anatomic Pathology and Hematopathology, Mayo Clinic, Rochester, Minnesota 55905, USA. remstein.ellen@mayo.edu
authors.forename: Ellen D
authors.initials: ED
authors.lastname: Remstein
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Kurtin
authors.forename: C David
authors.initials: CD
authors.lastname: James
authors.forename: Xiao-Yang
authors.initials: XY
authors.lastname: Wang
authors.forename: Reid G
authors.initials: RG
authors.lastname: Meyer
authors.forename: Gordon W
authors.initials: GW
authors.lastname: Dewald
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000782:Aneuploidy; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics*; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic; D014314:Trisomy