Detection of monoclonal immunoglobulin heavy chain gene rearrangements and its application in diagnosis of B-cell non-Hodgkin lymphoma

AIM: To establish a reliable and feasible protocol for detection of monoclonal immunoglobulin heavy chain (IgH) gene rearrangements for routine diagnosis of B-cell non-Hodgkin lymphoma (B-NHL). METHODS: Using the primer combinations of FR2, FR3, LJH and VLJH, mode tube A+ tube B, and semi-nested PCR, the monoclonal IgH gene rearrangements in 121 cases of B-NHL, 58 cases of T-cell non-Hodgkin lymphoma (T-NHL) and 19 cases of reactive lymphoid hyperplasia were detected. The differences of clonality detection rate between B-NHL group and T-NHL group, B-NHL group and reactive lymphoid hyperplasia group, and between the use of FR2, FR3 and FR2+FR3 primers were analyzed. RESULTS: The clonality detection rates of B-NHL, T-NHL and reactive lymphoid hyperplasia were 81% (96/118), 4% (2/54) and 0% (0/19). There were remarkable differences between B-NHL group and T-NHL group, B-NHL group and reactive lymphoid hyperplasia group in monoclonal IgH gene rearrangements (P<0.05). In B-NHL group, monoclonality was found in 58% of the cases using primer FR2, 55% using FR3, and 81% using the combination of both primers, with significant differences (P<0.05). CONCLUSION: Using the primer combinations of FR2, FR3, LJH and VLJH, detection of paraffin-embedded tissues, the method of tube A+tube B mode and semi-nested PCR for determining monoclonal IgH gene rearrangements is feasible and reliable, and the clonality detection rate is high enough for clinical diagnosis of B-NHL.