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

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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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