title: Lack of PAX5 rearrangements in lymphoplasmacytic lymphomas: reassessing the reported association with t(9;14).
abstract: A t(9;14)(p13;q32) involving the PAX5 and IGH genes has been described in association with lymphoplasmacytic lymphoma. Although often described as common, the incidence of this translocation in nodal lymphoplasmacytic lymphoma has never been investigated. Recent studies of patients with Waldenström's macroglobulinemia (often corresponding to marrow-based lymphoplasmacytic lymphoma) have failed to identify the t(9;14). These studies have suggested that either nodal and marrow-based lymphoplasmacytic lymphomas have distinct pathogenetic mechanisms or that the t(9;14) is less frequent in lymphoplasmacytic lymphoma than was believed previously. We therefore analyzed a series of nodal or other extramedullary lymphoplasmacytic lymphomas for the presence of the t(9;14) with paraffin section interphase fluorescence in situ hybridization. We developed a BAC contig probe spanning all previously described PAX5 breakpoints and validated this assay with the KIS-1 cell line that expresses a t(9;14). Analysis with the PAX5 probe showed a lack of PAX5 rearrangements in all cases that were analyzed successfully. Similarly, analysis by an IGH fluorescence in situ hybridization probe showed no evidence of translocations involving the IGH locus. These findings indicate that the t(9;14) is at least uncommon in lymphoplasmacytic lymphoma and should no longer be considered a characteristic finding in this type of lymphoma as defined by World Health Organization criteria.
authors.affiliation: Department of Clinical Pathology, Cleveland Clinic Foundation, Cleveland, OH, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Cook
authors.forename: Nadine Ives
authors.initials: NI
authors.lastname: Aguilera
authors.forename: Shalini
authors.initials: S
authors.lastname: Reshmi-Skarja
authors.forename: Xin
authors.initials: X
authors.lastname: Huang
authors.forename: Zhisheng
authors.initials: Z
authors.lastname: Yu
authors.forename: Susanne M
authors.initials: SM
authors.lastname: Gollin
authors.forename: Susan L
authors.initials: SL
authors.lastname: Abbondanzo
authors.forename: Steven H
authors.initials: SH
authors.lastname: Swerdlow
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D045744:Cell Line, Tumor; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins / Q000235:genetics*; D015322:Gene Rearrangement, B-Lymphocyte; D005803:Genes, Immunoglobulin / Q000235:genetics*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008875:Middle Aged; D051757:PAX5 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human; D014157:Transcription Factors