Clinical relevance of immunoglobulin mutation analysis

The precise diagnosis of malignant B-cell lymphoproliferations is essential for their appropriate clinical management. Histologic and immunophenotypical features alone are often insufficient in discriminating between various lymphoma entities and subtypes. The analysis of clonally rearranged immunoglobulin chain genes of the tumor cells was therefore suggested as an additional parameter. This article reviews current knowledge and describes which conclusions can be drawn for lymphoma diagnosis based on the type of immunoglobulin chain gene rearrangement, as well as on the number and distribution of somatic immunoglobulin mutations. Although there are striking correlations between the clinical outcome and the immunoglobulin mutations in some entities, many additional studies are required in order to draw final conclusions for most types of lymphoma.