Familial B-Cell Chronic Lymphocytic Leukemia
| Autor: | Kellie Neth, Guimei Zhou, Henry T. Lynch, Brigid Quinn-Laquer, Jane F. Lynch, Diane L. Pickering, Wing C. Chan, Warren G. Sanger, Patricia Aoun, Cynthia Page, Dennis D. Weisenburger, Patrice Watson |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male medicine.medical_specialty Chronic lymphocytic leukemia Biology Immunophenotyping hemic and lymphatic diseases medicine Humans Gene family In Situ Hybridization Fluorescence Aged 80 and over Family Health Genetics Chromosomes Human Pair 13 medicine.diagnostic_test Cytogenetics General Medicine Gene rearrangement Middle Aged medicine.disease Leukemia Lymphocytic Chronic B-Cell Chromosome abnormality Female Chromosome Deletion Immunoglobulin Heavy Chains Trisomy Fluorescence in situ hybridization |
| Zdroj: | American Journal of Clinical Pathology. 127:31-38 |
| ISSN: | 1943-7722 0002-9173 |
| DOI: | 10.1309/pftpll4hck2d1erk |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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