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 Citations (Scopus)

Abstract

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
Pages (from-to)31-38
Number of pages8
JournalAmerican Journal of Clinical Pathology
Volume127
Issue number1
DOIs
StatePublished - Jan 2007

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Immunoglobulin Heavy Chain Genes
B-Cell Chronic Lymphocytic Leukemia
Chromosome Aberrations
Genes
Chromosome Deletion
Gene Rearrangement
Trisomy
Interphase
Fluorescence In Situ Hybridization
Cytogenetics
Cluster Analysis
Flow Cytometry

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Familial B-cell chronic lymphocytic leukemia : Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage. / Aoun, Patricia; Zhou, Guimei; Chan, Wing C.; Page, Cynthia; Neth, Kellie; Pickering, Diane; Sanger, Warren; Quinn-Laquer, Brigid; Watson, Patrice; Lynch, Jane F.; Lynch, Henry T.; Weisenburger, Dennis D.

In: American Journal of Clinical Pathology, Vol. 127, No. 1, 01.2007, p. 31-38.

Research output: Contribution to journalArticle

Aoun, P, Zhou, G, Chan, WC, Page, C, Neth, K, Pickering, D, Sanger, W, Quinn-Laquer, B, Watson, P, Lynch, JF, Lynch, HT & Weisenburger, DD 2007, 'Familial B-cell chronic lymphocytic leukemia: Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage', American Journal of Clinical Pathology, vol. 127, no. 1, pp. 31-38. https://doi.org/10.1309/PFTPLL4HCK2D1ERK
Aoun, Patricia ; Zhou, Guimei ; Chan, Wing C. ; Page, Cynthia ; Neth, Kellie ; Pickering, Diane ; Sanger, Warren ; Quinn-Laquer, Brigid ; Watson, Patrice ; Lynch, Jane F. ; Lynch, Henry T. ; Weisenburger, Dennis D. / Familial B-cell chronic lymphocytic leukemia : Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage. In: American Journal of Clinical Pathology. 2007 ; Vol. 127, No. 1. pp. 31-38.
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