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Primary macroglobulinemia with t(11;18)(q21;q21)
1Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Cancer Genetics and Cytogenetics
|March 8, 2000
Summary
This study reports the first cases of primary macroglobulinemia with a specific chromosomal translocation, t(11;18)(q21;q21). These findings suggest primary macroglobulinemia may be a variant of marginal zone B-cell lymphoma.
Area of Science:
- Hematology
- Oncology
- Cytogenetics
Background:
- Primary macroglobulinemia (PMG) is a rare B-cell lymphoproliferative disorder.
- Specific chromosomal translocations are key in classifying and understanding lymphoid malignancies.
- The t(11;18)(q21;q21) translocation is known in other B-cell lymphomas, particularly marginal zone B-cell lymphoma (MZL).
Observation:
- Two distinct cases of PMG are presented, each with abnormal lymphoid cells in blood and bone marrow.
- Case 1: A 77-year-old male with IgM macroglobulinemia and lymphoid cells positive for surface IgM-k, CD19, CD20, and carrying t(11;18)(q21;q21).
- Case 2: A 57-year-old female with IgM macroglobulinemia and lymphoid cells positive for surface IgM-lambda, CD19, CD20, and carrying t(2;11;18)(q21-23;q21;q21).
Findings:
- These are the first reported instances of PMG associated with the t(11;18)(q21;q21) translocation.
- Immunophenotypic analysis revealed B-cell markers (CD19, CD20) and surface IgM.
- Karyotypic analysis confirmed the presence of t(11;18)(q21;q21) in the first case and a related translocation in the second, with no detected BCL2 or YES gene rearrangements.
Implications:
- The presence of t(11;18)(q21;q21) in PMG supports the hypothesis that a subset of PMG cases are variants of marginal zone B-cell lymphoma.
- This finding may refine diagnostic criteria and inform prognostic assessments for PMG.
- Further research into the molecular mechanisms underlying PMG with this translocation is warranted.