1/25. An adult patient with hypersensitivity to mosquito bites developing mantle cell lymphoma.hypersensitivity to mosquito bites (HMB) has been known to occur exclusively in the first 2 decades of life and is frequently associated with Epstein-Barr virus (EBV) infection and lymphoproliferative diseases. We report here the first adult patient with HMB, a 61-year-old Japanese man who developed mantle cell lymphoma. EBV was detected in the lymph node by polymerase chain reaction and by in situ hybridization. serum levels of interleukin (IL)-4, IL-6, and IL-10 were markedly increased, and the T-helper cell (Th)1/Th2 balance determined by intracellular cytokine levels was polarized to Th2. These findings suggest that the Th1/Th2 imbalance could partly be involved in the pathogenesis of HMB.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/25. Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization.Multicolour fluorescence in situ hybridization (M-FISH) simultaneously detects all 24 human chromosomes in unique fluorescent colours. The identification of diagnostically critical gene rearrangement(s) in complex karyotypes of haematological disorders continues to be a challenge. We present five cases in which t(9;11), complex t(8;22), t(12;21) and t(11;14) were detected primarily using M-FISH and were confirmed using locus-specific probes. We conclude that M-FISH can be effective in complete characterization of critical gene rearrangements in haematological disorders.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
3/25. Blastic mantle cell lymphoma associated with Burkitt-type translocation and hypodiploidy.Two elderly men with stage IV mantle cell lymphoma (MCL) rapidly developed a leukaemic phase with unusually high blast counts that proved fatal. One lymph node biopsy showed diffuse MCL, the other blastic morphology. In addition to t(11;14), there were t(8;14) and t(1;19) in case 1 and dup(8)(q24q13) in case 2. fluorescence in situ hybridization revealed genomic fusion of IgH/MYC genes in case 1 and an extra copy of C-MYC gene in case 2. The genomic alteration of C-MYC oncogene is probably implicated in the blastic transformation and aggressive behaviour of the disease.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/25. Unusual case of leukemic mantle cell lymphoma with amplified CCND1/IGH fusion gene.We describe a case of leukemic mantle cell lymphoma (MCL) with complex karyotype and amplification of the CCND1/IGH fusion gene. Testing for the presence of t(11;14), the hallmark of MCL, revealed multiple copies of the fusion signals. We therefore conducted extensive molecular cytogenetic studies to delineate the nature and consequences of such an abnormality. We localized the amplification to the der(14)t(11;14) and to a der(2) chromosome in a form of interspersed chromosome 11 and 14 material. This resulted in high expression of cyclin d1 mRNA and the protein expressed independently of the cell cycle phase. CGH analysis revealed that the overrepresentation on chromosome 11 included chromosomal band 11q23 in addition to the CCND1 locus at 11q13. The band 11q23 harbors the ataxia telangiectasia mutated (ATM) gene recently proposed to be involved in the pathogenesis of MCL with high incidence of deletions in this locus. Using YAC 801e11, containing the ATM gene, we demonstrated several hybridization signals, suggesting that this region also formed part of the amplicon. This case also showed TP53 gene abnormalities: protein expression, monoallelic deletion, and a mutation in exon 5. The clinical course was aggressive, and the patient died within 6 months of presentation. This is to our knowledge the first description of amplification of the CCND1/IGH fusion gene in a human neoplasm, which may have played a role in the fulminating course of the disease in this patient.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/25. Establishment and characterization of a new mantle cell lymphoma cell line, Mino.Mantle cell lymphoma (MCL) is a distinct type of B-cell non-Hodgkin's lymphoma characterized by cyclin d1 overexpression and the cytogenetic abnormality, the t(11;14)(q13;q32). MCL cell lines have been difficult to establish and in vitro studies of these neoplasms are scarce. We describe the establishment and characteristics of a new MCL cell line, Mino. The cells are large, growing singly and in small clumps in vitro. By flow cytometry, the immunophenotype was compatible with MCL (i.e. CD5 CD20 CD23-FMC7 ). Conventional cytogenetics showed hyperdiploidy with multiple complex karyotypic abnormalities, but no evidence of the t(11;14), proven to be present only by fluorescence in situ hybridization and polymerase chain reaction (PCR) methods. Western blots showed expression of cyclin d1 but no detectable cyclin d2 and cyclin d3; the retinoblastoma protein was predominantly phosphorylated. There was expression of tumor suppressor gene products including p53, p16(INK4a), and p21(WAF1). Sequencing of the TP53 gene revealed a mutation (codon 147(valine-->glycine)) in exon 5. Epstein Barr virus was absent. In summary, Mino is a new MCL cell line that may be useful to study the pathogenesis of MCL.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/25. Banded chromosomes versus fluorescence in situ hybridization in the diagnosis of mantle cell lymphoma: a lesson from three cases.We present three cases with presumptive evidence of mantle cell lymphoma (MCL) that were submitted for cytogenetic evaluation. Chromosome analysis showed a normal karyotype in two cases, while the third case showed the composite karyotype; 45,XY,t(1;22)(p13;q13),23,del(10)(q22),add(15)(q22),add(17)(p13). The characteristic t(11;14)(q13;q32) for MCL was not observed by conventional karyotyping in any of the cases. We furthermore evaluated the specimens by fluorescence in situ hybridization (FISH) using the dual-color LSI IgH/CCND1 dna probe. Fusion signals, consistent with t(11;14)(q13;q32), were observed in 65% and 85% of interphase cells in cases 1 and 2, respectively, while the metaphases from both cases revealed a normal pattern. All abnormal metaphases as well as 57% of interphase cells from case 3 displayed a fusion signal. In the abnormal metaphase cells, the fused signal was located on the normally looking 14q32, suggesting that the IgH/CCND1 fusion resulted from the insertion of the CCND1 gene into 14q32 adjacent to the IgH gene. Thus, FISH confirmed the diagnosis of MCL by showing the IgH/CCND1 fusion. In addition, these findings indicate that the sensitivity of FISH is superior to that of conventional cytogenetics in detecting t(11;14)(q13;q32) associated with MCL.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
7/25. Value of interphase FISH for the diagnosis of t(11:14)(q13;q32) on skin lesions of mantle cell lymphoma.The diagnosis of skin lesions of mantle cell lymphoma (MCL) may be difficult at the onset of the disease. We observed 2 patients with papules of the trunk and 1 with diffuse infiltration of the trunk and the face and 2 subcutaneous nodules. skin samples showed diffuse infiltration of the dermis (n = 1) or perivascular infiltration (n = 2). The infiltrate corresponded to centrocytic cells (n = 2) or pleomorphic blastoid cells (n = 1) with a B-cell phenotype: CD3-, CD5 (2/3), CD20 , CD23-, and CD43 . In only 1 case was cyclin d1 immunoreactivity detected, and the t(11;l4)(q13;q32) breakpoint was amplified from both lymph node and skin dna. Competitive reverse transcriptase-polymerase chain reaction was not contributive for skin specimens. In all 3 cases, interphase fluorescence in situ hybridization (FISH) demonstrated t(11;14) fusion signals either on paraffin sections or on fresh frozen touch preparations of skin biopsies. The recognition of skin lesions of MCL from other B-cell infiltrates can be established by interphase FISH.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/25. 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) |
9/25. Guess what: Chronic 13q14.3 /CD5-/CD23 lymphocytic leukemia in blood and t(11;14)(q13;q32) /CD5 /CD23- mantle cell lymphoma in lymph nodes!We report a case of a patient with two B-cell lymphoproliferative disorders: CD5(-)/CD23( ) B-cell chronic lymphocytic leukemia and CD5( )/CD23(-) mantle cell lymphoma. These disorders were diagnosed simultaneously based on flow cytometry, immunohistochemistry, fluorescence in situ hybridization, and polymerase chain reaction-based molecular studies. The B-cell lymphocytic leukemia clone predominated in the blood and bone marrow, whereas the mantle cell clone predominated in lymph nodes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/25. Clonal development of a blastoid mantle cell lymphoma studied with comparative genomic hybridization.A molecular cytogenetic study was performed on the diagnostic tumor sample and three relapses from a case with blastoid mantle cell lymphoma. The clonal relatedness of the tumors was demonstrated by identical rearrangements of the immunoglobulin heavy chain gene and was supported by results from comparative genomic hybridization analyses. All samples shared the common alterations of losses of 6q, 9p, and 11q and gains of 3q, 9q, 12p, and 13q, suggesting that they were relatively early events in the tumorigenesis. Relapse 1 also showed a loss of 8p, while relapses 2 and 3 had gained the x chromosome and 7p, in addition, relapse 3 displayed gains of chromosomes 3 and 20. Taken together, the findings suggest that relapses 2 and 3 developed from the diagnostic tumor sample, while relapse 1 represents a separate lineage of tumor progression originating directly from a postulated ancestral tumor cell carrying the common chromosomal alterations identified in all tumors.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
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