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Przybylski Grzegorz K - - 2010
Chromosomal aberrations have diagnostic, prognostic, and therapeutic relevance in hematologic malignancies. By combining fine-tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR), we established a fast, robust approach to precisely characterize chromosomal breakpoints. Using this approach, we clarified at the molecular level novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma. The ...
Valera Alexandra A Hematopathology Section, Laboratory of Pathology, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, - - 2010
Plasmablastic lymphoma (PBL) is an aggressive lymphoma characterized by a terminally differentiated B-cell phenotype that usually occurs in the immunocompromised or elderly patients. Although the clinical and pathologic characteristics of these tumors have been defined, the genetic alterations involved in their pathogenesis are not well known. In this study, we ...
Schweighofer Carmen D - - 2011
The t(14;19)(q32;q13) is a recurrent chromosomal translocation reported in a variety of B-cell leukemias and lymphomas, including chronic lymphocytic leukemia (CLL). CLL cases associated with t(14;19) often have atypical morphologic and immunophenotypic features and unmutated immunoglobulin heavy chain (IGH) variable region (V) genes, associated with an aggressive clinical course. We ...
Heyning F H - - 2010
Primary non-Hodgkin's lymphoma of bone (PLB) is a rare subtype of primary extranodal diffuse large B cell lymphoma. PLB has morphological homogeneity and a relatively favourable clinical behaviour. Recent studies report that array-based comparative genomic hybridisation (array-CGH) analysis can be used to classify lymphomas into clinically and biologically relevant phenotypes ...
Blom Eric - - 2010
Neocentromeres are rare epigenetic phenomena in which functional centromeres are formed onto novel chromosomal locations without any alpha-satellite DNA. To date, constitutional human neocentromeres have been reported in at least 90 cases. In cancer, however, the knowledge is much more limited. Acquired neocentromeres have been described in a particular class ...
Nambiar Mridula - - 2011
The t(14;18) translocation in follicular lymphoma is one of the most common chromosomal translocations. Most breaks on chromosome 18 are located at the 3'-UTR of the BCL2 gene and are mainly clustered in the major breakpoint region (MBR). Recently, we found that the BCL2 MBR has a non-B DNA character ...
Mussolin Lara - - 2010
Anaplastic large cell lymphoma (ALCL) constitutes approximately 15% of pediatric and 3% of adult non-Hodgkin lymphomas. Most pediatric cases harbor the reciprocal translocation t(2;5)(p23;q35), involving the alk gene. Cytogenetic studies of ALCL have mostly been published as case-reports. The aim of this study was to determine the cytogenetic profiles of ...
Wang Huan-You - - 2010
Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare neoplasia of interdigitating dendritic cells. Two single case reports documenting IDCS harboring t(14;18) translocation involving immunoglobulin heavy chain (IGH) and BCL2 have been reported recently; however, one of the 2 IDCS has a synchronous follicular lymphoma, the absence or presence of ...
Sevilla Deborah W - - 2011
Non-random karyotypic abnormalities associated with non-Hodgkin lymphomas (NHLs) have been described in cases of reactive lymphoid hyperplasia (RLH). However, the frequency and types of cytogenetic aberrations detected and their clinical relevance are unknown. To address these questions, we undertook a retrospective analysis of a large series of RLH diagnosed at ...
Tanaka Toshiaki - - 2010
PURPOSE: The t(11;18)(q21;q21) chromosome translocation is frequent in gastric MALT lymphoma, but the t(11;18)(q21;q21) chromosome translocation is very rare in other sites of MALT lymphomas. We investigated the possibility that MALT lymphoma occurred in the right buccal mucosa of a 66-year-old Japanese woman who had the t(11;18)(q21;q21) chromosome translocation. METHODS: ...
Pienkowska-Grela Barbara - - 2011
Burkitt lymphoma (BL) is an aggressive non-Hodgkin lymphoma characterized by specific morphological and immunophenotypic features. The basic genetic feature of BL is the rearrangement of MYC gene, visible as t(8;14)(q24;q32) translocation or its variant. However, some lymphomas with characteristic BL morphology are nowadays diagnosed as B-cell lymphoma unclassifiable with features ...
Zha Shan S Howard Hughes Medical Institute, Children's Hospital, Immune Disease Institute, and Harvard Medical School, Boston, MA 02115, USA. - - 2010
Ataxia telangiectasia mutated (ATM) deficiency predisposes humans and mice to T lineage lymphomas with recurrent chromosome 14 translocations involving the T cell receptor alpha/delta (Tcra/d) locus. Such translocations have been thought to result from aberrant repair of DNA double-strand breaks (DSBs) during Tcra locus V(D)J recombination, and to require the ...
Trcić Ruzica Lasan - - 2010
The detection of specific chromosomal abnormalities is important in the diagnostic workup of aggressive lymphomas, giving its impact on the treatment strategies and prognosis. This has been accomplished by using the fluorescent in situ hybridisation method (FISH) performed on fine needle aspiration (FNA) specimens what is attractive in the diagnosis ...
Eide Marianne Brodtkorb - - 2010
Our aim was to examine the genetics of clonal evolution in follicular lymphoma (FL) and to identify genetic alterations associated with disease progression. A total of 100 biopsies from 44 patients diagnosed with t(14;18)-positive FL were examined by array comparative genomic hybridization. In 20 patients the patterns of somatic hypermutations ...
Salido Marta - - 2010
We conducted a retrospective collaborative study to cytogenetically characterize splenic marginal zone lymphoma (SMZL) and ascertain the prognostic value of chromosomal aberrations. Of 330 cases, 72% displayed an aberrant karyotype, 53% were complex, and 29% had a single aberration. The predominant aberrations were gains of 3/3q and 12q, deletions of ...
Nagel Inga I Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. - - 2010
Sequence variants at the TERT-CLPTM1L locus in chromosome 5p have been recently associated with disposition for various cancers. Here we show that this locus including the gene encoding the telomerase reverse-transcriptase TERT at 5p13.33 is rarely but recurrently targeted by somatic chromosomal translocations to IGH and non-IG loci in B-cell ...
Fournier Alexandra - - 2010
Epigenetic perturbations are increasingly described in cancer cells where they are thought to contribute to deregulated gene expression and genome instability. Here, we report the first evidence that a distinct category of chromosomal translocations observed in human tumours--those targeting 1q12 satellite DNA--can directly mediate such perturbations by promoting the formation ...
Sholl Lynette M - - 2010
Molecular analysis complements the clinical and histopathologic tools used to diagnose and subclassify hematologic malignancies. The presence of clonal antigen-receptor gene rearrangements can help to confirm the diagnosis of a B or T cell lymphoma and can serve as a fingerprint of that neoplasm to be used in identifying concurrent ...
Watkins A James - - 2010
The diagnosis of splenic marginal zone lymphoma (SMZL) is frequently a challenge, due to its lack of specific histological features and immunophenotypic markers, and the existence of other poorly characterized splenic lymphomas defying classification. Moreover, the clinical outcome of SMZL is variable, with 30% of cases pursuing an aggressive clinical ...
Chen Yan - - 2010
In diffuse large B-cell lymphoma (DLBCL), BCL2 expression usually correlates with the t(14;18) (q32;q21) in germinal center B-cell (GCB) subtype and with gain/amplification of chromosome 18q21 in the activated B cell-like subtype. Studies have suggested that the GCB subtype is less common in Chinese than in Western populations. We studied ...
Asai Satomi - - 2010
OBJECTIVE: Lesions of mucosa-associated lymphoid tissue (MALT) lymphoma in the submandibular glands are localized or a part of systemic involvement in association with chromosomal aberrations. This series was undertaken to investigate the sonographic features of MALT lymphoma in the submandibular glands and their relationships with chromosomal aberrations and the disease ...
Seto Masao - - 2010
Characteristic chromosome translocations are associated with specific disease entities, and are known to play a pivotal role in lymphoma development. Chromosome translocation alone, however, is not sufficient to produce tumors. Factors including the microenvironment and epigenetic and genetic alterations other than chromosome translocations have been shown to play a role ...
Nelson Marilu - - 2010
Burkitt lymphoma (BL), an aggressive B-cell malignancy, is often curable with short intensive treatment regiments. Nearly all BLs contain rearrangements of the MYC/8q24 region; however, recent cytogenetic studies suggest that certain secondary chromosomal aberrations in BL correlate with an adverse prognosis. In this multi-centre study, the frequency and impact on ...
Bar?? Cristina - - 2009
Splenic marginal zone lymphoma (SMZL) is a well-recognized entity in which chromosomal aberrations seem to be potential markers in diagnosis, prognosis and disease monitoring. FOXP1 is a transcriptional regulator of B lymphopoiesis that is deregulated in some types of NHL. Translocation t(3;14)(p14;q32) has been described in marginal zone lymphomas but ...
Youssif Catrin - - 2009
Anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) is a T-cell malignancy in which ALK expression is a consequence of the t(2;5) or a variant translocation involving Chromosome 2. For the most part, this disease presents in the pediatric population and most, but not all, patients are successfully treated. ...
M'kacher R - - 2010
BACKGROUND: B cells are potential sites for latency and reactivation of the human neurotropic JC polyomavirus (JCV). We investigated JCV and Epstein-Barr virus (EBV) status in peripheral blood lymphocytes (PBL) from 74 Hodgkin's lymphoma (HL) and 91 B-cell non-Hodgkin's lymphoma (B-NHL) patients. PATIENTS AND METHODS: JCV and EBV DNA were ...
Sheth Avni - - 2009
Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease. Certain chromosomal translocations are associated with clinical outcome, but it is likely that there are both tumor suppressor genes and oncogenes that cooperate with the primary translocations. We have used the Mitelman database to compare chromosomal losses and gains of DLBCL ...
Alseraye F - - 2009
Double-minute chromosomes (dmin) are small chromatin particles that lack a centromere. They represent extrachromosomal form of gene amplification. Dmin are very rarely encountered in lymphoid neoplasms. We describe a case of a leukemic presentation of large B-cell lymphoma with dmin. Fluorescence in situ hybridization analysis identified these dmin as comprising ...
Nambiar Mridula - - 2010
Hematopoietic malignancies like leukemia and lymphoma are characteristically associated with various chromosomal translocations. Follicular lymphoma (FL) and mantle cell lymphoma (MCL) are two subtypes of non-Hodgkin's lymphoma which possess t(14;18) and t(11;14) translocations, respectively. The incidence of FL and MCL is higher in the western countries as compared to India. ...
Cho Hee Soon HS Department of Laboratory Medicine, Yeungnam University College of Medicine, Nam-Gu, Daegu, Korea. - - 2009
Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are known to result in TAL1 gene deregulation. The t(1;5)(p32;q31) is a rare translocation of 1p32 in T-ALL. We now present ...
Gu Keni - - 2009
A frequent chromosomal translocation in mature B-cell non-Hodgkin lymphoma affects band 3q27 and results in the deregulation of the B-cell lymphoma 6 (BCL6) gene. Two breakpoint clusters have been described thus far, the major breakpoint region (MBR) and an alternative breakpoint region (ABR) that is located 245-285 kb 5' to ...
Chuang Shih-Sung - - 2010
Richter's transformation (RT) is the development of a high-grade lymphoma in patients with B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). We report an extremely rare case with paraimmunoblastic transformation. A 78-year-old Taiwanese male had Rai stage 1 and Binet stage B CLL/SLL involving skin, peripheral blood (PB), and bone marrow ...
Obrador-Hevia Antònia - - 2009
Mantle cell lymphoma (MCL) is a well-defined lymphoid malignancy characterized by a rapid clinical evolution and poor response to current therapeutic protocols. The hallmark genetic alteration of MCL is the t(11;14)(q13;32) chromosomal translocation that leads to the overexpression of cyclin D1. Recently, new molecular alterations of major importance in the ...
Fujino Yasuhito - - 2009
A new proviral integration site for feline leukemia virus (FeLV), termed flit-1, was identified from feline thymic lymphoma. Among 35 FeLV-related tumors examined, 5 of 25 thymic lymphomas demonstrated proviral insertion within flit-1 locus whereas none of four alimentary and five multicentric lymphomas and one T-lymphoid leukemia examined had rearrangement ...
Tibiletti Maria Grazia - - 2009
Diffuse large B-cell lymphoma is the most common type of non-Hodgkin lymphoma. Although it is a curable disease, fewer than half of patients are cured with conventional chemotherapy. The highly variable outcome reflects a heterogeneous group of tumors, with different genetic abnormalities and responses to therapy. We analyzed 74 cases ...
Hutter G - - 2009
Mantle cell lymphoma (MCL) is a distinct subentity of non-Hodgkin lymphoma, characterized by the chromosomal translocation t(11;14)(q13;q32) leading to an overexpression of cyclin D1 in virtually all cases. However, additional cytogenetic aberrations are apparent in the vast majority of MCL. Applying LOH analysis in 52 MCL patient samples, we confirmed ...
Lawce Helen - - 2009
Deletions of chromosome 6q are found in many types of cancer, including melanoma, prostate cancer, fibroadenomas, and carcinoma of breast and other sites. Chromosome 6q deletions are also commonly found in lymphoid malignancies such as acute lymphocytic leukemia (ALL), chronic lymphocytic leukemia (CLL), non-Hodgkins lymphoma (NHL), multiple myeloma (MM), mantle ...
Chiu Brian C-H - - 2009
An excessive incidence of non-Hodgkin's lymphoma (NHL) has been reported among farmers and other occupational groups working with pesticides. Some pesticides exhibit immunotoxic and genotoxic activities. Individuals exposed to pesticides have also been found to have an increased prevalence of chromosomal abnormalities including the t(14;18)(q32;q21), one of the most common ...
Kokovic Ira - - 2009
Follicular lymphoma (FL) is characterized by the t(14;18)(q32;q21) chromosomal translocation which can be detected by polymerase chain reaction (PCR) in approximately 70% of cases. The aim of our retrospective study was to evaluate the sensitivity and the reproducibility of both conventional qualitative and quantitative PCR assays for detection of the ...
Wang Jing H - - 2008
Nonhomologous end-joining (NHEJ) repairs DNA double-strand breaks (DSBs) during V(D)J recombination in developing lymphocytes and during immunoglobulin (Ig) heavy chain (IgH) class switch recombination (CSR) in peripheral B lymphocytes. We now show that CD21-cre-mediated deletion of the Xrcc4 NHEJ gene in p53-deficient peripheral B cells leads to recurrent surface Ig-negative ...
Johnson Nathalie A - - 2008
Follicular lymphoma (FL) is an indolent lymphoma with a long median survival. Transformation to a more aggressive histology (TLy) is a major cause of mortality. The critical events leading to TLy are unknown. We assessed the prognostic significance of secondary cytogenetic alterations on overall survival (OS) and transformation from 210 ...
Senff Nancy J - - 2009
Primary cutaneous diffuse large B-cell lymphoma, leg type (PCLBCL, LT) is the most aggressive type of primary cutaneous B-cell lymphoma. In a recent study on 12 patients it was found that inactivation of CDKN2A by either deletion of 9p21.3 or promoter hypermethylation is correlated with a worse prognosis. In the ...
d'Amore Francesco - - 2008
PURPOSE: Follicular lymphoma typically has acquired a t(14;18) translocation, but subsequent additional cytogenetic abnormalities contribute to disease progression. The main aims of the study are to (a) identify the frequency and temporal sequence of cytogenetic events in t(14;18)-positive follicular lymphoma, (b) determine if there are specific pathways in the evolution ...
Sevilla Deborah W - - 2009
Cytogenetic abnormalities of chromosome 12p involving the TEL/ETV6 gene are observed in a variety of hematopoietic neoplasms including acute leukemias, myelodysplastic syndromes, and myeloproliferative disorders. Karyotypic aberrations, including rearrangements, deletions, and amplifications of chromosome 12p, have been documented in B-cell non-Hodgkin lymphoma; however, rearrangements targeting TEL have rarely been reported. ...
Vater Inga I Institute of Human Genetics, Christian-Albrechts University Kiel, Kiel, Germany. - - 2009
The translocation t(11;14)(q13;q32) is the genetic hallmark of mantle cell lymphoma (MCL) but is not sufficient for inducing lymphomagenesis. Here we performed genome-wide 100K GeneChip Mapping in 26 t(11;14)-positive MCL and six MCL cell lines. Partial uniparental disomy (pUPD) was shown to be a recurrent chromosomal event not only in ...
Katzenberger Tiemo - - 2009
Follicular lymphoma (FL) is a morphologically and genetically well-characterized B-cell non-Hodgkin lymphoma that can show predominantly follicular, combined follicular and diffuse, or predominantly diffuse growth patterns. Although approximately 85% of FLs harbor the translocation t(14;18)(q32;q21) and consistently display a follicular growth pattern, predominantly diffuse FLs are less well characterized on ...
Boerma E G - - 2009
Burkitt lymphoma (BL) has a characteristic clinical presentation, morphology, immunophenotype and primary chromosomal aberration, that is, the translocation t(8;14)(q24;q32) or its variants. However, diagnostic dilemmas may arise in daily practice due to overlap of BL with subsets of other aggressive, mature B-cell lymphomas such as diffuse large B-cell lymphomas (DLBCL). ...
Vinatzer Ursula - - 2008
PURPOSE: The well-known translocations identified in MALT lymphomas include t(11;18)/API2-MALT1, t(1;14)/IGH-BCL10, and t(14;18)/IGH-MALT1. Molecular investigations have suggested that these three disparate translocations affect a common pathway, resulting in the constitutive activation of nuclear factor-kappaB. However, the vast majority of MALT lymphomas are negative for any of the above-mentioned translocations and ...
Szymanowska Natalia - - 2008
Chromosomal translocations affecting the immunoglobulin heavy chain (IGH) locus in chromosomal band 14q32 are the most frequent cytogenetic changes in B-cell lymphomas. We studied the presence of IGH translocations in a consecutively ascertained series of 94 classical Hodgkin lymphomas (cHL) by combined immunofluorescence for CD30 and interphase cytogenetics (FICTION technique). ...
Barna Gábor - - 2008
Flow cytometric analysis of CD23 expression in CD5-positive B-cells is a widely applied method in the differential diagnosis of chronic lymphocytic leukaemia (CLL) and mantle cell lymphoma (MCL). According to the most accepted criteria, the leukaemic cell population is CD19/CD5/CD23 triple positive in CLL but CD23-negative in MCL. Recently, several ...
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