What does positive clonal IGH gene rearrangement mean?

May 08, 2023 Source: Cainiu Health
Dr. Yang Shuwen
Introduction
A positive IgH clonality rearrangement indicates clonal proliferation of B lymphocytes, suggesting a mutation in the B-cell genes and raising concern for lymphoma. However, not all lymphoma cases show a positive IgH clonality rearrangement. Further diagnostic procedures such as lymph node biopsy or bone marrow aspiration can be performed under the guidance of a specialist to confirm the diagnosis.

Generally, a positive result for IGH clonal rearrangement suggests monoclonal proliferation of B cells, and in some cases, lymphoma should be considered. The specific analysis is as follows:

During lymphocyte differentiation, gene rearrangement occurs. After rearrangement, each B lymphocyte has its own unique immunoglobulin (Ig) gene configuration, while T cells have specific T-cell receptor (TCR) gene arrangements. Immunoglobulin (Ig) molecules are encoded by IGK, IGL, and IGH genes, where IGK and IGL encode the light chains and IGH encodes the heavy chain. When a certain lymphocyte differentiates into a tumor cell and undergoes monoclonal proliferation, an abnormal monoclonal peak may be detected—this is referred to as a positive result.

In summary, a positive IGH clonal rearrangement test is a marker of clonal proliferation of B lymphocytes, indicating genetic mutations in B cells, raising suspicion for lymphoma. However, not all lymphoma cases will show a positive IGH clonal rearrangement result. It is recommended that when diagnosis remains uncertain, patients should visit a reputable hospital where specialized physicians can perform further evaluations, such as lymph node biopsy or bone marrow aspiration.