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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
[CD5 positive B cell leukemic lymphoma associated with BCL6 rearrangement]
H Hirai1, K Shimura, R Takahashi
1Second Department of Medicine, Kyoto Prefectural University of Medicine.
Insights
This study details a rare case of CD5 positive B-cell lymphoma with BCL6 gene rearrangement presenting without lymphadenopathy. The patient
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- CD5 positive B-cell lymphomas are a diverse group of lymphoid malignancies.
- Rearrangement of the BCL6 gene is observed in various B-cell lymphomas, influencing prognosis and treatment.
Observation:
- A 59-year-old male presented with fatigue and 70% abnormal lymphocytes in peripheral blood, with a dry bone marrow tap.
- Tumor cells were positive for CD5, CD19, CD20, HLA-DR, kappa, and sIgM, but negative for CD10.
- Cytogenetic analysis revealed a complex karyotype with t(3;22) and BCL6 gene rearrangement.
Findings:
- The patient was diagnosed with CD5 positive B-cell lymphoma.
- This case is unique due to the rare association of BCL6 rearrangement with a leukemic presentation lacking lymphadenopathy.
Implications:
- This case highlights the importance of comprehensive diagnostic workup, including cytogenetics, in atypical B-cell lymphoma presentations.
- Understanding BCL6 rearrangement in leukemic B-cell lymphomas may offer insights into disease pathogenesis and potential therapeutic targets.
Abstract:
A 59-year-old man was admitted in December 1995 because of general fatigue without lymphadenopathy. Increased abnormal lymphocytes (70%) were observed in peripheral blood. Bone marrow aspiration was a dry tap. Biopsy specimens revealed hypercellularity with infiltration of abnormal lymphocytes. Surface marker analysis of tumor cells was positive for CD5, CD19, CD20, HLA -DR, kappa, and sIgM and negative for CD10. Cytogenetic analysis disclosed a complex abnormal karyotype including t(3;22) and rearrangement of the BCL6 gene. The patient was given a diagnosis of CD5 positive B-cell lymphoma, but died in January 1997 despite repeated chemotherapy. This case was unique because BCL6 rearrangement has been reported in various types of B-cell lymphoma but rarely associated with leukemic types without lymphadenopathy.

