POLYMERASE CHAIN-REACTION DETECTION OF IMMUNOGLOBULIN GENE REARRANGEMENT AND BCL-2 TRANSLOCATION IN ARCHIVAL GLASS SLIDES OF CYTOLOGIC MATERIAL

Cytologic evaluation of lymph node fine-needle aspirates and serous ef fusions is a rapid and useful means for establishing the diagnosis of a variety of lymphoproliferative disorders. However, in some instances , cytologic findings are not sufficient to establish a diagnosis of ly mphoma, thus necessitating the use of ancillary procedures, the most f requent of which is immunophenotyping. In this respect, the usefulness of molecular markers, such as clonal immunoglobulin gene rearrangemen ts or chromosomal translocations, have been less well evaluated. Folli cular lymphoma constitutes an interesting disease for such a study bec ause these tumors possess characteristic histopathologic features and contain two potential molecular markers, that is, a clonal immunoglobu lin gene rearrangement and a bcl-2 gene translocation [t(14;18)]. In t he present study, we evaluated, retrospectively, the cytologic materia l from four lymph node fine-needle aspirates and one pleural effusion of five patients with biopsy-proven follicular lymphoma. In four of th e cases, definitive diagnosis of lymphoma had not been possible solely from cytologic evaluation. DNA was isolated from archival air-dried s amples present on glass slides and amplified by the polymerase chain r eaction (PCR) for detection of either a clonal immunoglobulin heavy ch ain gene rearrangement or bcl-2 translocation (major breakpoint region ). An immunoglobulin heavy-chain gene rearrangement was detected in fo ur of five patients, and two patients had the bcl-2 translocation by P CR. The effusion case was identical by gel electrophoresis with produc t amplified from a lymph node biopsy of the same patient and DNA extra cted directly from fresh pleural effusion cells. The results indicate that PCR may be a useful ancillary procedure in evaluation of patients with follicular lymphoma when the diagnosis cannot be established by morphology alone. This technique does not require any additional cytol ogic material because the sample present on the original air-dried gla ss slide can be used as the source of the required DNA.