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Clonal Abnormalities (clonal + abnormality)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study,

GENES, CHROMOSOMES AND CANCER, Issue 10 2009
Natalie Put
We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral blood or bone marrow were set up with the addition of either the conventional B-cell mitogen 12- O -tetradecanoyl-phorbol-13-acetate (TPA) or a combination of CpG oligonucleotide (CpG) and interleukin-2 (IL-2). Cytogenetic analyses were performed on both cultures. Clonal abnormalities were identified in 116 cases (53%). In 78 cases (36%), the aberrant clone was detected in both cultures. Among these, the percentages of aberrant metaphases were similar in both conditions in 17 cases, higher in the CpG/IL-2 culture in 43 cases, and higher in the TPA culture in 18 cases. Clonal aberrations were detected in only one culture, either in CpG/IL-2 or TPA in 33 (15%) and 5 (2%) cases, respectively. Taken together, abnormal karyotypes were observed in 51% with CpG/IL-2 and 38% with TPA (P < 0.0001). Application of FISH (n = 201) allowed the detection of abnormalities not visible by conventional cytogenetic analysis in 80 cases: del(13q) (n = 71), del(11q) (n = 5), +12 (n = 2), del(14q) (n = 1), and del(17p) (n = 1). In conclusion, our results confirm that CpG/IL-2 stimulation increases the detection rate of chromosomal abnormalities in CLL compared with TPA and that further improvement can be obtained by FISH. However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques. © 2009 Wiley-Liss, Inc. [source]

Do cytogenetic abnormalities precede morphologic abnormalities in a developing malignant condition?

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2007
Jill K. Northup
Abstract Cytogenetic evaluation of bone marrow and neoplastic tissues plays a critical role in determining patient management and prognosis. Here, we highlight two cases in which the cytogenetic studies challenge the common practice of using hematologic and morphologic changes as key factors in malignant disease management. The first case is that of a lymph node sample from a 40-yr-old non-Hodgkin's lymphoma (NHL) patient sent for determination of disease progress. Hematologic studies showed no evidence of transformation to high-grade NHL (>15% blasts with rare mitotic figures). Cytogenetic studies of lymph node showed multiple clonal abnormalities, most notably a der(18) from a t(14;18) which is associated with high-grade NHL. After two cycles of chemotherapy with fludarabine, the patient did not show any clinical response, suggesting possible progression to high-grade lymphoma. The second case is of a patient with a history of human immunodeficiency virus and blastic natural killer leukemia/lymphoma. Hematologic studies of ascitic fluid classified the patient as having pleural effusion lymphoma whereas bone marrow analysis showed no malignancy. Bone marrow cytogenetic studies showed multiple clonal abnormalities including a t(8;14), which is commonly associated with Burkitt's lymphoma (BL). To our knowledge, this is the first case wherein a morphologically normal bone marrow showed presence of clonal abnormalities consistent with BL or Pleural effusion lymphoma. After two cycles of CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) chemotherapy, the patient's general condition and ascitis improved and she was discharged. These studies clearly demonstrate that genetic changes often precede morphologic changes in a developing malignant condition. Therefore, the critical information needed for care of patients with malignant disorders may be incomplete or inaccurate if cytogenetic evaluation is overlooked. [source]

Trisomy 8 in Philadelphia-negative cells during imatinib therapy

AMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2004
P. Bernardeschi
Abstract Targeted therapy with imatinib selectively suppresses Philadelphia-positive cells in chronic myeloid leukemia cells, with reappearance of apparently normal hemopoiesis in a considerable number of patients. Recently, clonal abnormalities have been observed in Philadelphia-negative cells during imatinib therapy, the biologic and prognostic significance of which is actually unknown. A case of trisomy 8 occurring in Philadelphia-negative cells, which was treated by bone marrow transplantation, is reported. Chromosomal abnormalities in Philadelphia-negative cells do not seem to herald disease transformation, but the long-term prognosis may be influenced by an increased incidence of myelodysplasia in younger patients. Am. J. Hematol. 77:88,89, 2004. © 2004 Wiley-Liss, Inc. [source]

4262: MLPA of choroidal melanoma

ACTA OPHTHALMOLOGICA, Issue 2010
BE DAMATO
Purpose To determine the genotypic profiles of choroidal melanomas using multiplex ligation-dependent probe amplification (MLPA) and to correlate findings with clinical and pathological features and metastatic death. Methods DNA samples from 452 choroidal melanomas were analyzed with MLPA evaluating 31 loci on chromosomes 1, 3, 6 and 8. The MLPA results were correlated with survival predictors and wiht metastatic death. Results The patients (194 female; 258 male) had a median age of 59.4 years and a median follow-up of 1.89 years. Metastatic death occurred in 47 patients, correlating most strongly with concurrent chromosomes 3 losses and chromosome 8q gains (Logrank analysis, p<0.001). Many small choroidal melanomas with a basal diameter of less than 10mm showed only chromosome 3 loss or chromosome 8q gain or none of these, suggesting that their tumour was 'pre-lethal' at the time of ocular treatment. Conclusion MLPA analysis of choroidal melanoma is predictive of metastatic death and, therefore, clinically useful. The findings of this study are most consistent with evolutionary clonal abnormality, suggesting that timely treatment prevents the metastatic genotype and metastatic spread in a proportion of patients. [source]