Clonal proliferation of cyclin D1-positive mantle lymphocytes in an asymptomatic patient: an early-stage event in the development or an indolent form of a mantle cell lymphoma?

Mantle cell lymphoma (MCL) is a B-cell neoplasm with a relatively aggressive clinical course. There is a very small subgroup of patients who present with atypical lymphocytes in peripheral blood, with or without lymphocytosis, lymphadenopathy, or splenomegaly, and with an indolent clinical course. They frequently show mutated IgV(H) genes and CD5 negativity.

Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes.

Background And Objectives: The main prognostic factors in myelodysplastic syndromes (MDS) are chromosomal abnormalities, the proportion of blasts in bone marrow and number and degree of cytopenias. A consensus-defined International Prognostic Scoring System (IPSS) for predicting outcome and planning therapy in MDS has been developed, but its prognostic value in a large and independent series remains unproven. Furthermore, the intermediate-risk cytogenetic subgroup defined by the IPSS includes a miscellaneous number of different single abnormalities of uncertain prognostic significance at present.

Na+/H+ exchangers: physiology and link to hypertension and organ ischemia.

Purpose Of Review: Na/H exchangers (NHEs) are ubiquitous proteins with a very wide array of physiological functions, and they are summarized in this paper in view of the most recent advances. Hypertension and organ ischemia are two disease states of paramount importance in which NHEs have been implicated. The involvement of NHEs in the pathophysiology of these disorders is incompletely understood.

Correlation between histologic findings and cytogenetic abnormalities in bladder carcinoma: a FISH study.

Objectives: To investigate the chromosomal abnormalities present in bladder carcinoma using a fluorescence in situ hybridization assay and to correlate the genetic findings with the pathologic grade and stage.

Methods: Samples from 37 bladder carcinomas were obtained at cystectomy or transurethral resection. In all cases, a histologic evaluation and fluorescence in situ hybridization analysis were performed.

Lymphomatoid papulosis associated with mycosis fungoides: clinicopathological and molecular studies of 12 cases.

The association of mycosis fungoides and a primary cutaneous CD30+ lymphoproliferative disorder has been reported and probably represents different clinical aspects of a unique T-cell monoclonal expansion. In this study, 12 patients (6 men and 6 women) presented with lymphomatoid papulosis and mycosis fungoides. A TCRgamma gene rearrangement study was performed by an automated high-resolution PCR fragment analysis method on skin biopsy specimens taken from the different clinical lesions in each patient.

Clonal cytogenetic abnormalities in patients with chronic myeloid leukemia in complete cytogenetic response to imatinib mesylate.

The emergence of clonal chromosomal abnormalities in Philadelphia-negative cells during treatment with imatinib in patients with Philadelphia-positive chronic myeloid leukemia has been reported. We add information to this issue presenting a series of 29 patients in complete cytogenetic response after imatinib treatment, three of whom developed clonal aberrations.

Polysomy of chromosome 17 in breast cancer tumors showing an overexpression of ERBB2: a study of 175 cases using fluorescence in situ hybridization and immunohistochemistry.

Introduction: One of the most common genetic aberrations associated with breast cancer is the amplification and overexpression of the ERBB2 proto-oncogene located at chromosome 17, bands q12-21. The amplification/overexpression occurs in 25 to 30% of all breast cancers. In breast cancer, aneusomy of chromosome 17, either monosomy or polysomy, is frequently observed by conventional cytogenetics and fluorescence in situ hybridization (FISH).

Characterization of HER1 (c-erbB1) status in locally advanced breast cancer using fluorescence in situ hybridization and immunohistochemistry.

Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane glycoprotein encoded by the HER1 protooncogene, located at 7p12. This receptor is related to the pathogenesis of breast cancer. The aim of this study was to analyze the status of HER1 using fluorescence in situ hybridization (FISH) and immunohistochemistry in a series of 48 patients with locally advanced breast cancer (LABC).

Clonality analysis by HUMARA assay in Spanish females with essential thrombocythemia and polycythemia vera.

Analysis of the human androgen receptor gene (HUMARA) allows clonality to be assessed in essential thrombocythemia (ET) and polycythemia vera (PV). We studied clonality in 44 patients with ET, 18 with PV and in 64 healthy controls. The X-chromosome inactivation pattern was analyzed by HUMARA-polymerase chain reaction on DNA from purified granulocytes, T lymphocytes and the CD3- fraction of mononuclear cells.

Activation of mitochondrial apoptotic pathway in mantle cell lymphoma: high sensitivity to mitoxantrone in cases with functional DNA-damage response genes.

Mantle cell lymphoma (MCL) is a mature B-cell proliferation characterized by the presence of translocation t(11;14)(q13;q32), an aggressive clinical course, and poor response to chemotherapy. The majority of drugs currently used in the treatment of lymphoproliferative disorders induce cell death by triggering apoptosis, but few data concerning drug-induced apoptosis in MCL have been reported. We have analysed the mechanisms of drug-induced cell death in four cell lines with the t(11;14) and in primary cells from 10 patients with MCL.

Absence of MALT1 translocations in primary cutaneous marginal zone B-cell lymphoma.

The implication of MALT1 gene in the pathogenesis of primary cutaneous marginal zone B-cell lymphomas (PCMZL) has been a matter of controversy. We examined the presence of MALT1 translocations in a series of 23 PCMZL. FISH assay with a MALT1 dual color break apart translocation probe revealed the absence of MALT1 translocations in all cases.

Genetic diagnosis by comparative genomic hybridization in adult de novo acute myelocytic leukemia.

A total of 127 adult de novo acute myelocytic leukemia (AML) patients were analyzed by comparative genomic hybridization (CGH) at diagnosis. Conventional cytogenetic analysis (CCA) showed a normal karyotype in 45 cases and an abnormal karyotype in 56 cases; in the remaining cases, CCA either failed to yield sufficient metaphase cells (19/26) or was not done (7/26). Abnormal CGH profiles were identified in 39 patients (30.

Is fluorescence in situ hybridization a useful method in diagnosis of polycythemia vera patients?

Polycythemia vera (PV) is a clonal stem cell disease with trilineage myeloid involvement, characterized by a growth factor-independent erythroid proliferation. At the time of diagnosis, the percentage of cytogenetic abnormalities using conventional cytogenetic techniques is less than 20% of all PV patients. In the present study, we compare the results between conventional cytogenetic methods and fluorescence in situ hybridization (FISH) probes in 31 untreated PV patients.

Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation.

The t(8;16)(p11;p13) fuses the MOZ (MYST3) gene at 8p11 with CBP (CREBBP) at 16p13 and is associated with an infrequent but well-defined type of acute myeloid leukemia (AML) that has unique morphocytochemical findings (monocytoid blast morphology with erythrophagocytosis and simultaneously positive for myeloperoxidase and nonspecific esterases). RT-PCR amplification of MOZ/CBP (MYST3/CREBBP) chimera has proved difficult, with four different transcripts found in four reported cases. We studied 7 AML-t(8;16) patients, 5 with cytogenetically demonstrated t(8;16) and 2 with similar morphocytochemical and immunophenotypical characteristics.

Heterogeneity of structural abnormalities in the 7q31.3 approximately q34 region in myeloid malignancies.

Abnormalities in the long arm of chromosome 7 are a frequent chromosomal aberration in myeloid disorders. Most studies have focused on the analysis of del(7q), demonstrating the presence of several minimal deleted regions in 7q22 approximately q31. By contrast, few studies in myeloid disorders have been devoted to the analysis of translocations, either balanced or unbalanced, involving 7q.

Comparative analysis of TCR-gamma gene rearrangements by Genescan and polyacrylamide gel-electrophoresis in cutaneous T-cell lymphoma.

Demonstrating T-cell clonality has become an important approach supporting a diagnosis of malignant T-cell neoplasms. A comparative study between Genescan analysis, polyacrylamide gel and agarose gel electrophoresis in visualizing T-cell receptor gamma gene rearrangement was performed on 25 biopsy specimens from 18 patients with different forms of cutaneous T-cell lymphomas. Clonality was detected in 17 biopsy specimens when PCR products were evaluated by Genescan analysis.

Genetic characterization of Sézary's syndrome by conventional cytogenetics and cross-species color banding fluorescent in situhybridization.

Background And Objectives: Sezary's syndrome is a peripheral T-cell neoplasm characterized by a pruritic exfoliative or infiltrated erythroderma, lymphadenopathies, and atypical T lymphocytes in the peripheral blood. Cytogenetic studies are scarce. This study was designed to increase cytogenetic information on this disorder.

Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.

Tetrasomy of short arm of chromosome 9 constitutes a clinically recognizable chromosomal syndrome. Isochromosome 9p shows a strong propensity to tissue-limited mosaicism. It occurs predominantly in peripheral blood cultures, often at a lower frequency or even absent in skin, amniotic fluid or chorionic villous cell cultures.

Cytogenetic and fluorescence in situ hybridization studies in 60 patients with multiple myeloma and plasma cell leukemia.

We report cytogenetic results in a series of 60 patients affected with multiple myeloma (MM) and plasma cell leukemia (PCL) and compare the results with those previously reported. In our series, a total of 41% of MM patients and 71% of PCL patients displayed chromosome abnormalities. To evaluate the clinical value of monosomy 18, we obtained fluorescence in situ hybridization results (using centromeric probe for chromosome 18) of 22 MM patients who displayed a normal karyotype.

Absence of ATM deletions in 16 cases of splenic marginal-zone B-cell lymphoma (SMZBCL).

We present the study of 16 cases of splenic marginal zone B-cell lymphoma (SMZBL) combining conventional cytogenetics and fluorescence in situ hybridization technique (FISH). We used a locus specific probe (11q22.3) that hybridizes with Ataxia Telangiectasia Mutated gene (ATM) and a centromeric probe of chromosome 11 as a control.