Familial B-cell chronic lymphocytic leukemia: Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage

Patricia Aoun, Guimei Zhou, Wing C. Chan, Cynthia Page, Kellie Neth, Diane Pickering, Warren Sanger, Brigid Quinn-Laquer, Patrice Watson, Jane F. Lynch, Henry T. Lynch, Dennis D. Weisenburger

Research output: Contribution to journalArticle

10 Scopus citations


B-cell chronic lymphocytic leukemia (B-CLL) is a heterogeneous disease that may exhibit familial clustering. We examined the cytogenetic, immunophenotypic, and VH gene usage characteristics of a family with B-CLL affecting 7 members in 3 generations. Interphase fluorescence in situ hybridization studies identified an acquired deletion of chromosome 13q14 in the leukemic cells of 6 affected members, accompanied by deletion 14q32 or trisomy 12 in 2 cases. V H gene analysis demonstrated clonal rearrangements of the V H3 gene family in 5 cases and of VH2 genes in 1 case. All 6 cases were mutated in VH2 or VH3. Two cases had a second VH1 family gene rearrangement that was unmutated. Flow cytometry performed on 5 cases showed the typical B-CLL immunophenotype; all were CD38-, but 3 expressed ZAP-70. Our findings support previous observations that familial and sporadic B-CLL cases are biologically similar and suggest that familial clusters will be useful for studying pathogenetic events in B-CLL.

Original languageEnglish (US)
Pages (from-to)31-38
Number of pages8
JournalAmerican journal of clinical pathology
Issue number1
Publication statusPublished - Jan 1 2007



  • CLL
  • Chronic lymphocytic leukemia
  • Cytogenetics
  • FISH
  • Fluorescence in situ hybridization
  • Immunophenotyping
  • Variable region genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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