Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-3-14
pubmed:abstractText
In this study, we wished to determine whether familial chronic lymphocytic leukemia of B-cell phenotype (CLL) shares with sporadic B-CLL the same immunoglobulin (Ig) heavy chain variable region (VH) gene usage and occurrence of somatic mutation, to gain insight into the pathogenetic relatedness of these epidemiologically distinct forms of CLL. We therefore analyzed the expressed Ig heavy chain genes in 23 cases (11 families) of familial CLL, and compared these results with data previously reported for sporadic CLL. In addition, we assessed the relationship of the occurrence of somatic mutation to several clinical and phenotypic features. The distribution of V genes among these cases was similar to that observed in sporadic CLL: VH3 > VH1 > VH4. Thirteen of the 23 cases (57%) showed germ line VH gene sequences, whereas somatic mutations were detected in 10 cases (43%). The average mutation frequency of these latter 10 cases of was 6.7% (ranging from 1.7% to 8.8%), and evidence of antigen selection was noted in 6. Intraclonal variation, followed by clonal evolution and the appearance of a second clone over a 20-year period was observed in 1 case, suggesting that mutations can continue to accumulate after neoplastic transformation. The presence of somatic mutations correlated with age at presentation, low white blood cell (WBC) count, and low fluorescence intensity of surface CD5, and the potential significance of these relationships is discussed. Our data indicate that familial and sporadic B-CLL display a similar pattern of immunoglobulin gene usage and frequency of somatic mutation, and are consistent with a common ontogeny and immunogenetic origin for these 2 epidemiologically distinct forms of CLL. (Blood. 2000;95:1413-1419)
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
95
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1413-9
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:10666219-Adult, pubmed-meshheading:10666219-Aged, pubmed-meshheading:10666219-Amino Acid Sequence, pubmed-meshheading:10666219-Female, pubmed-meshheading:10666219-Genes, Immunoglobulin, pubmed-meshheading:10666219-Germ-Line Mutation, pubmed-meshheading:10666219-Humans, pubmed-meshheading:10666219-Immunoglobulin Heavy Chains, pubmed-meshheading:10666219-Immunoglobulin Variable Region, pubmed-meshheading:10666219-Immunophenotyping, pubmed-meshheading:10666219-Leukemia, Lymphocytic, Chronic, B-Cell, pubmed-meshheading:10666219-Male, pubmed-meshheading:10666219-Middle Aged, pubmed-meshheading:10666219-Molecular Sequence Data, pubmed-meshheading:10666219-Mutation, pubmed-meshheading:10666219-Neoplasm Staging, pubmed-meshheading:10666219-Nuclear Family, pubmed-meshheading:10666219-Polymerase Chain Reaction
pubmed:year
2000
pubmed:articleTitle
Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL.
pubmed:affiliation
Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institute of Health, Bethesda, MD, USA.
pubmed:publicationType
Journal Article, Comparative Study