Uncommon cytogenetic findings in a case of splenic marginal zone lymphoma with aggressive clinical course.

The majority of splenic marginal zone lymphoma (SMZL) patients experience an indolent clinical course; however, some cases transform to a high-grade lymphoma. Cytogenetic analyses have shown that chromosome 7 is the most frequently altered chromosome and, in some cases, 7q deletion has been found as a single aberration, suggesting its association with the development of SMZL. We studied one patient showing clinical features of SMZL with an aggressive course. Immunophenotypic, conventional and molecular cytogenetic techniques were applied to support the diagnosis. The immunophenotype of peripheral blood mononuclear cells showed the presence of 90% B-lymphocytes. Cytogenetic analysis indicated the presence of a stem-line lacking normal chromosomes 7, but showing a der(7) and a ring, and a side-line with additional aberrations: t(2;22), add(8). Fluorescence in situ hybridization analysis revealed a loss of the 7q32 region. Nonclonal rearrangements involving chromosome 7 were also detected. Chromosome 7 rearrangements were studied to investigate their evolution during the development of the pathology. We have shown that in this patient both chromosomes 7 underwent different rearrangements leading to a loss of the 7q32 region and that the ring chromosome originated from chromosome 7 and was associated with a t(7;7) (p22;q31). We conclude that not only the 7q deletion but also the proneness of chromosome 7 to rearrange might have played a role in the progression of this SMZL.