The role of molecular analysis of immunoglobulin and T cell receptor gene rearrangements in the diagnosis of lymphoproliferative disorders

Aims-To investigate whether the analysis of immunoglobulin (Ig)/T cell rece ptor (TCR) rearrangements is useful in the diagnosis of lymphoproliferative disorders. Methods-In a series of 107 consecutive cases with initial suspicion of non- Hodgkin's lymphoma (NHL), Southern blot (SB) analysis of Ig/TCR rearrangeme nts was performed. Results-In 98 of 1.00 histopathologically conclusive cases, Ig/TCR gene res ults were concordant. In one presumed diffuse large B cell lymphoma (DLCL) and one follicular lymphoma (FL) case no clonality could be detected by SE analysis, or by polymerase chain reaction (PCR) at second stage. In the DLC L, sampling error might have occurred; the FL was revised after an initial diagnosis of reactivity. In many of the histopathologically inconclusive ca ses Ig/ TCR gene SE analysis was helpful, giving support for the histopatho logical suspicion. However, because of a lack of (clinical) follow up data this could not be confirmed in a few cases. Conclusions-Experienced haemato-pathologists or a pathologist panel can dia gnose malignant versus reactive lesions in most cases without the need for Ig/TCR gene analysis and can select the 5-10% of cases that might benefit f rom molecular clonality studies.