What causes diffuse large B-cell lymphoma (DLBCL)?

Updated: Aug 20, 2020
  • Author: Shipra Gandhi, MBBS; Chief Editor: Emmanuel C Besa, MD  more...
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B-cell restricted markers (CD19, CD20, CD22) are expressed consistently in diffuse large cell lymphoma. Activation antigens are variably expressed by diffuse large B-cell lymphomas (DLBCLs), with human leukocyte antigen (HLA)-DR being the most frequent and CD23 being expressed uncommonly (0-25%). The presence of CD10 or CD5 suggests that at least one third of diffuse large cell lymphomas may have transformed from follicular lymphomas or a small lymphocytic lymphoma.

The majority of DLBCLs demonstrate rearrangements of the immunoglobulin genes by deoxyribonucleic acid (DNA) hybridization techniques, proving their B-cell lineage.

Mutations or allelic losses of the TP53 tumor suppressor gene or 17p13.1 are common in diffuse large cell lymphomas, particularly in the immunoblastic type. Changes in TP53 appear to be particularly involved in the evolution of follicular lymphoma to diffuse large cell lymphoma. [25] A number of cytogenetic abnormalities have been reported in these neoplasms, including t(14;18), t(8;14), trisomy 12, and deletion of 6q. [26, 27]

A study by Pasqualucci et al found that the DLBCL coding genome contains on average more than 30 clonally represented gene alterations per case. Mutations identified included those regulating chromatin methylation (MLL2, seen in 24% of cases) and immune recognition by T cells. [28]

Alizadeh et al concluded that the measurement of LMO2 and TNFRSF9 can be used to predict overall survival in patients with diffuse large cell lymphomas. [29]

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