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Blood, 15 March 2002, Vol. 99, No. 6, pp. 2262-2264
BRIEF REPORT
Somatically mutated Ig VH3-21 genes characterize a
new subset of chronic lymphocytic leukemia
Gerard Tobin,
Ulf Thunberg,
Anna Johnson,
Ingrid Thörn,
Ola Söderberg,
Magnus Hultdin,
Johan Botling,
Gunilla Enblad,
Jan Sällström,
Christer Sundström,
Göran Roos, and
Richard Rosenquist
From the Departments of Genetics and Pathology
and Oncology, Radiology and Clinical Immunology, Uppsala University,
Uppsala, Sweden, and the Department of Medical Biosciences, Pathology,
Umeå University, Umeå, Sweden.
Recent studies on the immunoglobulin variable heavy
chain (IgVH) genes have revealed that B-cell chronic
lymphocytic leukemia (B-CLL) consists of at least 2 clinical entities
with either somatically mutated or unmutated VH genes. We
have analyzed the VH gene mutation status and
VH gene usage in 119 B-CLL cases and correlated them to
overall survival. A novel finding was the preferential use of the
VH3-21 gene in mutated cases, whereas biased
VH1-69 gene usage was found in unmutated cases as
previously reported. Interestingly, the subset of mutated cases using
the VH3-21 gene displayed distinctive genotypic/phenotypic characteristics with shorter average length of the
complementarity determining region 3 and clonal expression of light chains. In addition, this mutated subset showed significantly shorter survival than other mutated cases and a similar clinical course
to unmutated cases. We therefore suggest that B-CLL cases with
mutated VH3-21 genes may constitute an additional entity of
B-CLL.

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