Deletions of 17p13.1 and 13q14 are uncommon in Waldenström macroglobulinemia clonal cells and mostly seen at the time of disease progression.

Waldenström macroglobulinemia (WM) is a plasma cell dyscrasia characterized by a monoclonal IgM paraproteinemia. Deletions of 17p13.1 and 13q14 are associated with tumor progression and worsened outcome in multiple myeloma (MM), and we thus investigated WM patients for their presence. Patients (n = 40) were required to have a > or = 1.5 g/dl serum IgM paraproteinemia and a monoclonal lymphoplasmacytic infiltrate. We used interphase fluorescence in situ hybridization (FISH) with probes that localized to 17p13.1(LSI p53/CEP 17) and 13q14 (D13S319 and LSI 13 Rb). Of 40 successfully studied patients for 17p13.1(p53) deletions, 6 were abnormal, consistent with hemizygous deletion (15%). Of 37 cases successfully studied for the 13q14 deletions, 6 were also abnormal with one pair of signals deleted (16%). Patients with deletions were more likely to be later in the course of the disease. No obvious clinical associations were noted with the exception that patients with 17p13.1(p53) deletions had a higher percent involvement of clonal cells in the bone marrow. Deletions of these two regions are uncommon in WM, being more common in the late stages of the disease, thus unlikely playing a role in primary disease pathogenesis.