The value of detecting immunoglobulin gene rearrangements in the diagnosis of B-cell lymphoma

Abstract

ObjectiveTo discuss the clinical value of immunoglobulin gene rearrangements in the diagnosis of B-cell lymphoma.MethodsA total of 209 cases of B-cell lymphomas and 35 cases of reactive lymphoid hyperplasia were selected for DNA extraction and PCR amplification using the BIOMED-2 primer system. Gel electrophoresis of heteroduplexes was used to analyze immunoglobulin gene rearrangements.ResultsA total of 209 cases of B-cell lymphoma, including 69 extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue, 63 diffuse large B-cell lymphomas, 39 follicular lymphomas, 15 small lymphocytic lymphomas, 6 plasmacytomas, 6 mantle cell lymphomas, 7 nodal marginal zone B-cell lymphomas, and 4 lymphoplasmacytoid lymphomas, were examined. Immunoglobulin gene rearrangements were found in all 209 cases, with 93 IGHA, 122 IGHB, 98 IGHC, 167 IGK, 100 IGL, 167 IGHA/B/C, 204 IGH/IGK, 209 IGH/IGK/IGL, 129 IGH+IGK, 81 IGH+IGL, 83 IGK+IGL and 68 IGH+IGK+IGL gene rearrangements. Immunoglobulin gene rearrangements were not found in the 35 cases of reactive lymphoid hyperplasia. IGH and IGK gene rearrangements were mainly found in mantle cell lymphomas, small lymphocytic lymphomas, extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue and diffuse large B-cell lymphomas. The IGH gene rearrangement was mainly found in lymphoplasmacytoid lymphomas and follicular lymphomas. IGK and IGL gene rearrangements were mainly found in plasmocytoma, and the IGK gene rearrangement was mainly found in nodal marginal zone B-cell lymphomas.ConclusionsThe BIOMED-2 standardized immunoglobulin gene rearrangement detection system is an important tool in B-cell lymphoma diagnosis. Analysis of IGH, IGK and IGL gene rearrangements is valuable in confirming the classification of B-cell NHL.

Colorectal diffuse large B-cell lymphoma: molecular subclassification and prognostic significance of immunoglobulin gene translocation

“…Among the 16 cases, 1 case without IGH translocation had IGK translocation (case 24) and 1 case without IGH translocation had both IGK and IGL translocations (case 6). In one patient with IGH translocation, we also found concomitant translocations involving both IGK and IGL; this is a rare phenomenon that has only been reported in nodal DLBCL [19,36]. Interestingly, similar to IGH translocation, the presence of IGs translocation was associated with favorable prognosis in our patients with colorectal DLBCL (n = 25) (Fig.…”

“…The reported cytogenic abnormalities in DLBCL include the translocations involving IGH (14q32), IGK (2p12), IGL (22q11), BCL2 (18q21), BCL6 (3q27), MYC (8q24), API2 (11q21) and MALT1 (18q21) [18,19]. Nevertheless, it is not easy to examine all the above translocations at the daily practice level, while the G-band of chromosomal inspection is not sufficiently sensitive, and next-generation sequencing is expensive [8][9][10].…”

Bladder mucosa-associated lymphoid tissue lymphoma progressed from chronic cystitis along with a comparative genetic analysis during long-term follow-up: a case report

“…Polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were performed to compare the genetic characteristics of the two biopsy samples obtained before and after 4-year followup period. The BIOMED-2 primer system was used to analyze immunoglobulin gene clonal rearrangements using multiplex PCR, according to the BIOMED-2 guidelines (8,9). Immunoglobulin heavy chain (IGH) gene rearrangements in the first and the second sample were compared with a normal tonsil sample.…”

MALT lymphoma of the colon: a clinicopathological review

“…Another investigation using PCR could identify clones in only approximately 70% of cases using combined IGH,Immunoglobulin light chain kappa (IGK) and Immunoglobulin light chain Lambda (IGL)primers 28. An additional study was able to increase the sensitivity by using primer sets for partially rearranged IGH along with IGK and IGL, however, the expanded primer sets were considered too expansive for clinical utility 29. Furthermore, caution should be taken in using PCR because false positive results may be seen in reactive hyperplasia to infectious agents such as H. pylori in chronic active gastritis 6…”