1/23. Derivation of a new hematopoietic cell line with endothelial features from a patient with transformed myeloproliferative syndrome: a case report.BACKGROUND: During embryonal development primitive hematopoiesis can be observed first in the yolk sac, in which both hematopoietic and endothelial cells are derived from a common precursor, the hemangioblast. Whether cells with this dual differentiation potential persist during postnatal life is unknown. methods: A cell line was derived from a patient with secondary acute leukemia. Because of its ability to grow in soft agar and in SCID mice, this cell line was analyzed for expression of differentiation antigens by fluorescence-activated cell sorter analysis, immunocytochemistry, fluorescent in situ hybridization (FISH) analysis with simultaneous cell surface staining, and polymerase chain reaction (PCR). RESULTS: A new cell line was established from a patient with essential thrombocytosis that transformed into acute leukemia. The patient's initial clinical presentation included skin and lymph node infiltrations that were taken for an angiosarcoma due to positivity for CD34, CD31, and von willebrand factor on immunohistology. In addition to hematopoietic markers, leukemic cells expressed endothelial antigens such as CD62E, CD105, and bound ulex europaeus lectin-1. Immunocytochemistry revealed positive staining for vascular endothelial growth factor receptor type 2 (KDR), Tie-2/Tek, the angiopoietin receptor, and vascular endothelial cadherin. These results were confirmed by PCR analysis. Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia. FISH analysis of histologic sections of the lymph node infiltration confirmed this manifestation as part of the leukemic process. The derived cell line, UKE-1, forms colonies in soft agar and is tumorigenic in SCID mice. CONCLUSIONS: This new cell line, UKE-1, appears to combine hematopoietic and endothelial features, indicating the close ontogenic relation of both lineages.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/23. Translocation t(2;7)(p12;q21-22) with dysregulation of the CDK6 gene mapping to 7q21-22 in a non-Hodgkin's lymphoma with leukemia.BACKGROUND AND OBJECTIVES: A female patient presented with splenomegaly and lymphocytosis with atypical lymphoid cell morphology. We identified t(2;7)(p12;q21) prompting studies of the translocation breakpoint and its consequences on protein expression to confirm or otherwise the recently reported involvement of CDK6 and IG k genes in the t(2;7) leading to over-expression of CDK6 protein. DESIGN AND methods: A variety of clinical and laboratory techniques including cell marker, cytogenetic and histologic studies were applied in order to establish the diagnosis. fluorescence in situ hybridization (FISH) and Southern blotting were used for mapping the translocation breakpoint and Western blotting for assessing protein expression. RESULTS: immunophenotyping showed the presence of a B-cell population with strong expression of FMC7, CD22, CD79b, CD5 and k restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell non-Hodgkin's lymphoma was made. karyotyping revealed a clone with t(2;7)(p12;q21-22). Evidence for clonal evolution with additional abnormalities including a deletion of the TP53 was present. We established by FISH and Southern blotting that the breakpoint on 7q21-22 fell in a region 66kb telomeric to the previously reported breakpoint for the t(2;7) and was the same as that observed in a t(7;21). CDK6 protein was over-expressed. The patient received alkylating agents and splenectomy and is alive but the lymphocytosis persists with evidence of disease progression. INTERPRETATIONS AND CONCLUSIONS: We have demonstrated that CDK6 expression is dysregulated even when the breakpoint on 7q21-22 is located 66kb upstream from the coding region. Interestingly, the precise assignment of the lymphoma type in our case was not possible even when the splenic histology was analyzed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/23. Multiple telomeric aberrations in a telomerase-positive leukemia patient.Bone marrow samples from a pancytopenia/leukemia patient were routinely analyzed at first and second admission. At the first presentation, the karyotype was normal, whereas 17 months later several chromosome aberrations were recognized including presumed additions to the short arms of chromosomes 1 and 16 in all cells, and numerous other aberrations in subpopulations of cells. From the predominance of aberrations at chromosome ends, we suspected insufficient telomere maintenance as an underlying mechanism behind the karyotype changes, in particular as an interstitial deletion in the region harboring the gene for the rna component (hTERC) of the telomerase enzyme was also noticed; however, while molecular cytogenetic investigation confirmed the terminal aberrations, we found the malignant cells positive for telomerase activity and the presence of an hTERC gene on both chromosomes 3. A presumed chromosome 1 addition turned out to reflect an amplification of a tandemly repeated sequence element. Labeling of multiple tandem repeat sequences in situ by a novel multicolor primed in situ hybridization showed no evidence of instability of other repeated dna elements.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/23. Mantle cell lymphoma with 8q24 chromosomal abnormalities: a report of 5 cases with blastoid features.The t(11;14)(q13;q32) resulting in cyclin d1 overexpression is consistently present in mantle cell lymphoma. However secondary chromosomal aberrations are also extremely common. Of these, 8q24 abnormalities associated with the t(11;14) are rare. Over the course of 10 years at M.D. Anderson Cancer Center, we identified five cases of mantle cell lymphoma in which conventional cytogenetic analysis revealed complex karyotypes, including the t(11;14) and 8q24 abnormalities: one with t(8;14)(q24;q32), one with t(2;8)(q13;q24), and three with add(8)(q24). We performed fluorescence in situ hybridization (FISH) studies on all cases. In the case with the t(8;14), IgH/myc fusion signals were identified, and in the case with the t(2;8), split c-myc signals were detected. In the three cases with add(8)(q24), one case had split c-myc signals and two cases had three copies of c-myc. Thus, the c-myc gene was involved in all cases. All five neoplasms had blastoid morphologic features, and four cases, including the cases with the t(8;14) and t(2;8), had leukemic involvement. We conclude that 8q24 abnormalities involving the c-myc gene are uncommon secondary abnormalities that occur in a subset of mantle cell lymphomas. C-myc gene abnormalities are associated with blastoid cytologic features and also may be associated with leukemic involvement.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/23. A t(1;9)(q23.3 approximately q25;q34) affecting the ABL1 gene in a biphenotypic leukemia.Recurring chromosome translocations, which are found in leukemia, can result in the inappropriate expression of oncogenes or in the formation of chimeric genes that code for structurally and functionally abnormal proteins. The chromosomal t(1;9)(q23.3 approximately q25;q34) was found in a patient with biphenotypic leukemia. fluorescence in situ hybridization (FISH) analysis revealed that the break on chromosome 9 occurred in the ABL1 gene. The breakpoint on chromosome 1 occurred distal to the PBX1 gene at 1q23.3, as shown by FISH using BAC RP11-503N16 and RP11-403P14, which flank the PBX1 locus; hence, the ABL1 gene can be fused with another gene distal to PBX1 gene.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/23. Biphenotypic acute leukemia with t(15;17).Biphenotypic acute leukemias (BAL) represent 5% of all acute leukemias. The most frequent cytogenetic abnormalities described are philadelphia chromosome and 11q23 involvement. Here we report a BAL case, with blasts showing lymphoblast morphology and positivity for myeloperoxidase (in 6% of the blast cells). Immunophenotype revealed the compromise of myeloid and B-lymphoid lineages. cytogenetic analysis showed the t(15;17) and 8 trisomy. PML/RARa rearrangement was detected by fluorescent in situ hybridization (FISH) on interphase nuclei while PML/RARa fusion transcript was detected in the bone marrow and peripheral blood by molecular biology studies (RT-PCR). This report describes a BAL case with an unfrequent cytogenetic abnormality, and highlights the importance of correlating the results of multiple diagnostic methods in order to establish a correct diagnosis and treatment in BAL patients.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/23. Novel cytogenetic findings revealed by conventional cytogenetic and FISH analyses in leukaemia patients.AIM: To describe novel cytogenetic findings in four leukaemia patients. methods: Conventional cytogenetic (CC) and fluorescence in situ hybridization (FISH) analyses were performed on bone marrow samples of four leukaemia patients. RESULTS: In this study, t(3;10)(q11;q25) and t(2;22)(p21;q11.2) were detected as novel translocations. t(8;16;21)(q22.1;q13;q22) and t(1;6;9;22)(p36.1;p21.3;q34;q11) were found as variant translocations, and these variant translocations were confirmed by interphase-FISH and Multi-colour-FISH. CONCLUSION: Newly identified cytogenetic findings can lead us to characterize cytogenetic evolution of the haematological malignancies. Further investigations are certainly warranted to resolve the prognostic impact of these new cytogenetic abnormalities.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/23. Aggressive NK-cell leukaemia associated with reactive haemophagocytic syndrome.We report a case of aggressive NK-cell leukaemia associated with reactive haemophagocytic syndrome in a 29-year-old Korean woman who had several small purpuric patches on both thighs. She also had high fever. Laboratory tests revealed pancytopenia and deranged liver function, and atypical lymphocytes containing toxic granules were detected from peripheral blood and bone marrow. The bone marrow examination showed diffuse histiocytic proliferation with several haemophagocytic macrophages, suggesting an associated reactive haemophagocytic syndrome. skin biopsy from her thigh lesion demonstrated atypical CD56 lymphoid cellular infiltrates with angiocentric pattern, and in situ hybridization test for Epstein-Barr virus was positive. Although we treated her with chemotherapy, she died 1 month later.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/23. Molecular cytogenetic analysis of leukemic mantle cell lymphoma with a cryptic t(11;14).We report a case of leukemic mantle cell lymphoma of the blastoid variant with complex chromosomal rearrangements leading to the recombination of BCL1 from 11q13 and IGH from 14q32. G-banding analysis showed, in addition to multiple other chromosome abnormalities, a del(11)(q13) and addition of unknown material to chromosome arms 13p and 21p. The two latter rearrangements were revealed, by use of multicolor in situ hybridization (M-FISH) analysis, to be a der(13)(qter-->p11::14q32::11q13-->11q22::14q32-->14q11::11q22-->11qter) and a similar der(21)(qter-->p11::14q32::11q13-->11q23::14q32-->14q11::11q22-->11qter). FISH with locus-specific probes for BCL1 and IGH showed a fusion signal on both derivative chromosomes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/23. Detection of multidrug-resistant protein, p-glycoprotein in childhood leukaemia and lymphoma.Flow cytometric detection of surface p-glycoprotein, a multidrug-resistant gene product, with a monoclonal antibody, MRK 16, was performed on cells obtained from 18 children with leukaemia and lymphoma. Of 18 patients examined, 1 with malignant lymphoma at relapse showed a significant increase in p-glycoprotein-positive cells and a strong resistance to chemotherapy. Overexpression of p-glycoprotein in a case with B-cell type malignant lymphoma was confirmed by immuno-precipitation and Northern hybridization analysis. The present study suggests that an increased expression of surface p-glycoprotein might be involved in multidrug resistance at least in a certain case of childhood leukaemia and lymphoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
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