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Updated: Apr 27, 2026

VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
Published on: December 28, 2015
Alternate clonal dominance in richter transformation presenting as extranodal diffuse large B-cell lymphoma and
Andrea Di Bernardo1, Alberto Mussetti2, Antonella Aiello3
1From the Department of Anatomic Pathology, Orthopaedic Institute G. Pini, Milan, Italy; Andrea.DiBernardo@gpini.it.
Objectives:
Richter transformation (RT) represents the rare occurrence of a secondary aggressive lymphoma in the setting of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
Methods:
Here we describe the peculiar case of a patient with trisomy 12+ and atypical (CD5+, CD23-) CLL/SLL who developed a two-step RT with complex morphologic and molecular features.
Results:
Molecular analysis of a CLL/SLL population detected two different immunoglobulin rearrangement patterns corresponding to a main peak and a minor peak. Transformation took place both as gastric diffuse large B-cell lymphoma and as a synchronous bone marrow classic Hodgkin lymphoma with the same immunoglobulin rearrangement pattern corresponding to the minor peak detected in CLL/SLL at diagnosis. During chemotherapy, progression occurred as axillary nodal involvement by a CD5+ high-grade lymphoma with an immunoglobulin rearrangement pattern corresponding to the main CLL peak.
Conclusions:
In this case, the elaborate clinical and molecular picture may be correlated to an alternate dominance of two distinct clonal populations probably influenced by therapeutic and environmental factors.
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