Familial B-Cell Chronic Lymphocytic Leukemia

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

doi:10.1309/pftpll4hck2d1erk

Cited by 10 publications

(2 citation statements)

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“…Cytogenetic and immunophenotypic results of familial and sporadic B-CLL patients were similar to each other. Some other studies analyzing familial B-CLL cases have also suggested similar findings (54, 55). …”

Section: Discussionsupporting

confidence: 75%

FISH Analysis for del6q21 and del17p13 in B-cell Chronic Lymphocytic Leukemia in Iranians

Teimori

Ashoori

Akbari

et al. 2013

Iran Red Crescent Med J

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BackgroundB-cell chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the Western world. Major progress has been made in assessing typical chromosomal abnormalities and recognition of the correlation of these chromosomal abnormalities with laboratory features and clinical course of the disease. The most frequent genomic changes are deletions at 13q14, 11q22-23 and 17p13 and trisomy of chromosome 12.ObjectivesThe aim of this study was to investigate the frequency of chromosomal aberrations in B-CLL patients’ peripheral blood and/or bone marrow using a molecular cytogenetic method, interphase fluorescence in situ hybridization (I-FISH) and to evaluate the correlation between these genomic changes and clinical findings.Patients and MethodsI-FISH analyses were performed on bone marrow and blood samples of 66 B-CLL patients.ResultsDeletion of 17p13 was found in 11 (16.6%) and deletion 6q21 was present in 5 (7.5%). Statistical analyses were performed to investigate the correlation of these molecular-cytogenetic findings with family history, Rai staging and CD38 marker. No clear differences in distribution was noted for del17p13 and del6q21 among patients with and without family history, and no direct correlation was noted between these genomic changes and CD38 marker, but the correlation of del17p13 and Rai stage was significant. There was a high frequency of Rai stage II within del17p13 patients.ConclusionsIt was demonstrated that the presence of del6q21 in B-CLL patients indicates poor prognosis and on the contrary, presence of del17p13 points at the good prognostic value of the disease.

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Section: Discussionsupporting

confidence: 75%

FISH Analysis for del6q21 and del17p13 in B-cell Chronic Lymphocytic Leukemia in Iranians

Teimori

Ashoori

Akbari

et al. 2013

Iran Red Crescent Med J

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“…Bi-allelic or concomitant monoallelic/biallelic deletions are detected in up to 1/3 of sporadic cases with 13q14 loss and have also been reported in the setting of familial occurence. 5 , 6 High density mapping of familial cases has revealed a commonly shared haplotype in a locus near 13q14 that may comprise susceptibility genes for the pathogenesis of CLL. Interestingly, 85% of familial members sharing this region have deletions in 13q14.…”

mentioning

confidence: 99%

Familial chronic lymphocytic leukemia in two siblings with ATM/13q14 deletion and a similar pattern of clonal evolution

Kostopoulos¹,

Tsakiridou

Pavlidis³

et al. 2015

Blood Cancer Journal

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Immunophenotypic features distinguishing familial chronic lymphocytic leukemia from sporadic chronic lymphocytic leukemia

Ahmad

Steinberg²,

Goldin

et al. 2008

Cytometry Part B Clinical

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Background: Familial chronic lymphocytic leukemia (CLL) has the most frequent familial aggregation among hematological malignancies. Familial CLL families have been studied to identify susceptibility genes and other factors that contribute in the etiology of CLL. To date no study has been conducted to evaluate and compare patterns of cell surface antigen expression in familial CLL and sporadic CLL.Methods: The pattern of cell surface antigen expression was studied in familial and sporadic CLL to determine if unique identifiers of familial CLL could be detected. Survival in familial CLL verses sporadic CLL was compared and the association between prognosis and CD38 expression studied.Results: Familial and sporadic CLL demonstrated the same characteristic immunophenotype (positive for surface immunoglobulin, CD5, CD19, and CD23 with dim CD20, and CD22). CD2 and CD13 expression, however, were more frequent (30% of cases) in familial CLL (P 5 0.0003 for CD2, P 5 0.006 for CD13) than in sporadic CLL (2-6%). There was no significant difference in survival in the two groups studied. Although the incidence of CD38 expression was similar in familial and sporadic CLL (47% and 44% respectively) the association with prognosis differed. There was a trend to decreased survival in CD38 positive sporadic (P 5 0.06) but not familial CLL patients.Conclusions: We conclude that detection of CD2 or CD13 expression in CLL suggests familial CLL and examination of family history for additional affected members is warranted. Furthermore, CD38 expression does not carry the negative prognosis observed in sporadic CLL. Published

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Familial B-Cell Chronic Lymphocytic Leukemia

Cited by 10 publications

References 2 publications

FISH Analysis for del6q21 and del17p13 in B-cell Chronic Lymphocytic Leukemia in Iranians

FISH Analysis for del6q21 and del17p13 in B-cell Chronic Lymphocytic Leukemia in Iranians

Familial chronic lymphocytic leukemia in two siblings with ATM/13q14 deletion and a similar pattern of clonal evolution

Immunophenotypic features distinguishing familial chronic lymphocytic leukemia from sporadic chronic lymphocytic leukemia

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