الفهرس | Only 14 pages are availabe for public view |
Abstract The chromosomal translocation t(11;14)(q13;q32) fuses the IgH and CCND1 genes and leads to cyclin D1 overexpression. This genetic abnormality is the hallmark of mantle cell lymphoma (MCL), but is also found in some cases of atypical chronic lymphocytic leukemia (CLL), characterized by a poor outcome. For an assessment of this specific chromosomal rearrangement on interphase cells, we studied the t(11;14) using the dual-fusion probe in 40 CD5+ve lymphoproliferative disorder. Thirty-five cases show typical CLL phenotype CD19+/CD20+/CD5+/ CD23-, and five cases show atypical CLL/ MCL phenotype CD19+/ CD20+/ CD5+/CD23+. An IGH–CCND1 fusion was detected in 2 of the 5 cases that show atypical CLL/ MCL phenotype (2 cases classified as typical MCL and 3 cases as typical CLL). We conclude that the diagnosis of mantle cell lymphoma (MCL) requires a multifaceted approach with integration of morphology and immunophenotype, supported by cyclin D1 positivity or identification of t(11;14)(q13;q32). Interphase fluorescence in situ hybridisation (FISH) using a dual color, dual fusion probe strategy for t(11;14) is a rapid test with high sensitivity and specificity for MCL, and is easily performed on routine bone marrow aspirate or peripheral blood specimens. This test has become the method of choice for many pathologists to confirm a diagnosis of MCL. |