Familial B-Cell Chronic Lymphocytic Leukemia: Analysis of Cytogenetic Abnormalities, Immunophenotypic Profiles, and Immunoglobulin Heavy Chain Gene Usage  

Oleh:

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

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American journal of Clinical Pathology vol. 127 no. 1 (Jan. 2007), page 31 - 38.
Topik: Chronic lymphocytic leukemia; CLL; Fluorescence in situ hybridization; FISH; Cytogenetics; Immunophenotyping; Variable region genes

Ketersediaan

Perpustakaan FK Nomor Panggil: A08.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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. VH gene analysis demonstrated clonal rearrangements of the VH3 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.

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