V(D)J recombination and somatic hypermutations are developmentally regulated during B-cell differentiation; therefore, DNA analysis of the Ig gene delineates the cellular origin of B-cell neoplasms. We analyzed the third complementarity-determining region and adjacent regions of the Ig heavy-chain gene of tumor cells from 7 patients with Waldenstrom's macroglobulinemia (WM) and from 10 patients with B-cell chronic lymphocytic leukemia (CLL), 2 of whom progressed to high-grade non-Hodgkin's lymphoma (NHL), ie, Richter's syndrome (RS). There were no intraclonal variations resulting from VH replacements or ongoing somatic mutations in both WM and CLL. We found replacement mutations in the D and/or JH segments in all patients with WM and in 4 of the 10 patients with CLL, including the 2 RS patients. Replacement mutations were clustered in codon 102 of the JH segment. Preferential utilization of the JH4 gene was found in WM (5 of 7 [71.4%]) and in CLL (7 of 10 [70.0%]), and DXP family genes in CLL (5 of 10 [50.0%]). In conclusion, WM and CLL with RS are generated under the influence of antigenic stimulation and selection. However, the majority of CLL may arise from a distinct subpopulation that has the restricted repertoire of nonmutated Ig genes.
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April 1, 1995
Frequent somatic mutations in D and/or JH segments of Ig gene in Waldenstrom's macroglobulinemia and chronic lymphocytic leukemia (CLL) with Richter's syndrome but not in common CLL
H Aoki,
H Aoki
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
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M Takishita,
M Takishita
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
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M Kosaka,
M Kosaka
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
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S Saito
S Saito
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
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Blood (1995) 85 (7): 1913–1919.
Citation
H Aoki, M Takishita, M Kosaka, S Saito; Frequent somatic mutations in D and/or JH segments of Ig gene in Waldenstrom's macroglobulinemia and chronic lymphocytic leukemia (CLL) with Richter's syndrome but not in common CLL. Blood 1995; 85 (7): 1913–1919. doi: https://doi.org/10.1182/blood.V85.7.1913.bloodjournal8571913
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April 1 1995
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