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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.

Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure. We used classical and high-resolution chromosome analyses along with chromosome painting and DNA sequencing to study patients with triple A syndrome. We observed abnormalities in the heterochromatic region of chromosome 9 that included chromatid breaks, chromosome breaks, whole chromosome arm loss, and marker chromosomes, which occurred at unusually high frequencies in affected patients and heterozygotes. Our study raises the possibility of an association between chromosomal fragility in band 9q12 and triple A syndrome. Further investigation is necessary to understand the biologic basis of this finding in the context of triple A syndrome., (Copyright 2002 Wiley-Liss, Inc.)