Multiple karyotypic aberrations in a polymorphous variant of Waldenstrom macroglobulinemia

A 71-year old woman presented with malaise, skin bruising, epistaxis, and g ingival bleeding of recent and prompt onset. There was no adenopathy. The l iver and spleen were not enlarged. Bone marrow aspirate showed a polymorpho us infiltration with lymphocytes (22%), typical Marschalko plasma cells (16 %), plasmacytoid lymphocytes (29%), lymphoblasts (8%), and immunoblasts (13 %). The immunoblasts morphologically resembled lymphosarcoma cells with a f requent "clover-leaf" appearance, An IgM paraprotein concentration in serum was 38.5 g/L. The bone marrow histopathology confirmed the presence of het erogenous cell infiltration, with 30% of the population being comprised of lymphoblasts and immunoblasts. In order to differentiate a polymorphous var iant of Waldenstrom macroglobulinemia (WM) from the more common small cell lymphocytic lymphoma (SLL) in anaplastic metamorphosis, flow cytometric stu dies were performed on marrow specimens. A typically bright surface IgM (la mbda) was demonstrated with a less bright CD38. Further immunophenotype was HLA-DR+, CD19(+), CD20(+) and CD10(-), CD22(-), T-Ag- and kappa light chai n(-) expression. This corroborated the diagnosis of an extremely rare, poly morphous variant of WM. The marrow cytogenetics disclosed 50% (10/20) patho logic metaphases 48,X dup(X)(p21p22), der(2), + 5, del(6)(q11q21), + 12,inv (16)(p13q22), del(17) (p12), and 50% normal metaphases. The patient was tre ated with a LOPP protocol. She failed to respond and died 5 months after th e diagnosis with myocardial and renal insufficiency complicating a pronounc ed pancytopenia in the peripheral blood. (C) Elsevier Science Inc., 1999. A ll rights reserved.