Six patients had blood and bone marrow manifestations characterized by the
presence of morphologically immature or blastic B-lineage lymphoid cells ex
pressing CD5 antigen. The median patient age was 70 years, and the male-to-
female ratio was 5:1. The presence or degree of lymphadenopathy and splenom
egaly was variable among this group at staging evaluation, although two pat
ients did not have these features. One patient had an antecedent diagnosis
of classical nodal mantle cell lymphoma, without prior morphologic blood or
bone marrow involvement. Other patients lacked a history of underlying lym
phoproliferative disorders. The median white blood cell count was 120 x 10(
9)/L. Most patients had thrombocytopenia, whereas only one patient had neut
ropenia at presentation. Leukemic peripheral blood cells in these six cases
were small to medium in size with fine or granular nuclear chromatin and s
mall or inconspicuous nucleoli. The pattern of marrow involvement was inter
stitial or diffuse, with cells showing immature nuclear features resembling
acute leukemia or blastic lymphoma All tumors demonstrated a consistent im
munophenotype of B-cell lineage, surface immunoglobulin positivity, and CD5
antigen expression. The progenitor cell-associated markers CD34 and TdT we
re not expressed, and CD23 antigen was either negative (three of four cases
) or only weakly present tone of four cases). The presence of a karyotypic
t(11;14)(q13;q32) was documented in one tumor, whereas two other cases had
BCL-1 gene rearrangements by either polymerase chain reaction or Southern b
lot analysis. Cyclin D1 mRNA overexpression was noted in three of four case
s tested. This patient group was characterized by very poor overall surviva
l (median, 3 months; range, 0.5 to 6 months). The aggregate clinical, patho
logic, and genetic data in these unusual cases are consistent with de novo
or predominant leukemic presentations of blastic mantle cell lymphoma. Accu
rate diagnosis in such cases is greatly facilitated by cytogenetic studies
or the demonstration of BCL-1/cyclin D1 abnormalities.