CHARACTERIZATION OF T(11-14) TRANSLOCATION IN MANTLE CELL LYMPHOMA BYFLUORESCENT IN-SITU HYBRIDIZATION

Characterization of chromosome abnormalities in leukemia and lymphoma have contributed to the understanding of the molecular basis of these neoplastic diseases, In addition, specific chromosomal aberrations hav e acquired diagnostic or prognostic value. The t(11;14)(q13;q32) chrom osome translocation has been detected in mantle cell lymphomas, Howeve r, possibly due to the limits of conventional cytogenetic analysis and the presence of different breakpoints at the molecular level, it is p ossible that the true percentage of association is underestimated, In our study, we used a yeast artificial chromosome, spanning the entire area where the rearrangements occur on chromosome 11q13, to detect the presence of translocations by fluorescent in situ hybridization exper iments. We detected BCL-1 translocations in eight of eight patients wi th clinical and immunological features of mantle cell lymphoma, sugges ting that the t(11;14) translocation is a critical event in the pathog enesis of MCL and may be a primary element for the diagnosis. Since th is translocation is associated with poor prognosis, its detection may help to make a correct diagnosis as well as to evaluate residual disea se, which is critical to plan a rational chemotherapy regimen.