| Cytogenetics Morphological | primary changes: t(14;18)(q32;q21) / BCL2-rearrangement: this molecular cytogenetic defect is found in approximately 15-25% of the cases, many of which are thought to derive from the transformation of an antecedent follicle centre cell lymphoma; in virtually all cases additional cytogenetic defects are present, including 17p13/p53 lesions; this balanced translocation can be demonstrated by conventional cytogenetics, by FISH and by molecular genetic methods, including southern blotting and PCR; the latter method is useful for the monitoring of minimal residual disease. t(3;V)(q27;V) / BCL6-rearrangement: chromosome translocations involving the 3q27 band with a number of partner chromosomes ( 14q32, 2p11, 22q11, 4p11, 6p21, 11q23 ) are found in 5-10% of the cases by cytogenetic analysis, but the incidence of BCL6 rearrangement may reach 20-30% of the cases when investigated by southern blotting; there is not an absolute correlation between rearrangement of the 3q27 band and BCL6 involovement; cryptic BCL6 rearrangements were demonstrated by FISH, consisting of an insertion of IgH sequences within the regulatory portion of the BCL6 gene t(8;14)(q24;q32) / MYC rearrangements: this aberration is found by cytogenetic or molecular genetic methods in 7-10% of the cases; probes for FISH detection of myc rearrangements were also tested succesfully; an association with the centroblastic variant of DLCL was proposed. |
| Additional anomalies | secondary anomalies: trisomies of chromosomes 3, 5, 7, 11, 12, 18 and X are usually encoutered in >10% of the cases. the most frequent monosomies include -13, -14, -15. gains of 1q and 6p were reported in more than 10% of the cases. frequently occurring deletions involve 1p, 6q, 7q32-ter, 8p, 9p, 11q, 17p. the most frequent breakpoints are clustered in the following regions: 1cen-p13; 1p34-36; 3q21-22; 3q27-29; 6q12-16; 6q21-25; 7q32, 9cen-p21; 17cen-p12. there are reports suggesting that an inferior prognosis may be associated with 1q21-23 breaks, with 1q23-32 duplications, with 6q21-25 breaks and with 11q22-23 deletion; complex karyotype may have an adverse impact on prognosis. |
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