TY - JOUR
T1 - Familial B-cell chronic lymphocytic leukemia
T2 - Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage
AU - Aoun, Patricia
AU - Zhou, Guimei
AU - Chan, Wing C.
AU - Page, Cynthia
AU - Neth, Kellie
AU - Pickering, Diane
AU - Sanger, Warren
AU - Quinn-Laquer, Brigid
AU - Watson, Patrice
AU - Lynch, Jane F.
AU - Lynch, Henry T.
AU - Weisenburger, Dennis D.
PY - 2007/1
Y1 - 2007/1
N2 - 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.
AB - 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.
KW - CLL
KW - Chronic lymphocytic leukemia
KW - Cytogenetics
KW - FISH
KW - Fluorescence in situ hybridization
KW - Immunophenotyping
KW - Variable region genes
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U2 - 10.1309/PFTPLL4HCK2D1ERK
DO - 10.1309/PFTPLL4HCK2D1ERK
M3 - Article
C2 - 17145621
AN - SCOPUS:34249078262
SN - 0002-9173
VL - 127
SP - 31
EP - 38
JO - American journal of clinical pathology
JF - American journal of clinical pathology
IS - 1
ER -