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PubMed2000

Immunophenotypic shift in a case of mycosis fungoides with vitreous invasion.

The case of an 82-year-old man who developed intraocular extension from mycosis fungoides, a cutaneous T-cell lymphoma, is presented. The patient died soon after intraocular involvement occurred. Immunohistochemistry of a skin biopsy, taken early in the course of the disease, disclosed a predominance of T cells with a helper/inducer phenotype (CD4(+)). However, an intraocular infiltrate obtained 7 years later contained mostly T cells with a suppressor/cytotoxic phenotype (CD8(+)). The occurrence of ocular invasion, the change in immunophenotype, and the predominant proliferation of CD8(+) lymphocytes may have been related to the poor outcome in this patient.

Aged↗
PubMed1999

Indeterminate-cell histiocytosis: immunophenotypic and cytogenetic findings in an infant.

BACKGROUND: The authors report the immunohistochemical, ultrastructural, and cytogenetic findings in a case of malignant histiocytic proliferation in an infant. PROCEDURE: The patient presented initially with bone lesions without skin or systemic involvement. Multiple biopsies were studied extensively by immunohistochemistry and electron microscopy. Cytogenetic studies of cell cultures supplemented with granulocyte-monocyte colony stimulating factor (GM-CSF) were also performed. RESULTS: Morphologically, the cells resembled Langerhans cells, although with greater pleomorphism, as evinced by cells with usual polylobated nuclei. These cells expressed markers for macrophages and antigen presenting cells and were CD1a- and S-100-positive, but lacked Birbeck granules. The cells grown in culture supplemented with GM-CSF showed a unique combination of numerical and structural abnormalities affecting chromosomes 1, 6, 8, and 10. The disease followed a malignant course leading to the patient's demise despite aggressive chemotherapy and bone marrow transplant. CONCLUSIONS: The findings suggest a malignant hematopoietic stem-cell neoplasm with a capacity for macrophage or dendritic-cell differentiation. Morphology and immunophenotypic features place this neoplasm within the group recently conceptualized as indeterminate-cell histiocytosis.

Chromosome Aberrations↗
PubMed1997

p21WAF1/CIP1 and MDM2 expression in non-Hodgkin's lymphoma and their relationship to p53 status: a p53+, MDM2-, p21-immunophenotype associated with missense p53 mutations.

p53 is a tumour suppressor gene which is often found to be inactivated in most types of human cancer. p53 is a transcription factor, the inactivation of which may lead to significant variations in the levels of p53 downstream proteins, such as p21WAF1/CIP1 and MDM2. In view of the significance of p21WAF1/CIP1 and MDM2 as wild-type (wt) p53 targets, this study was undertaken to monitor the varying expression of these proteins in non-Hodgkin's lymphomas (NHLs) in relation to p53 gene status. A total of 57 cases of different histological types of NHL were included in this study. Proteins p53, p21WAF1/CIP1, and MDM2 were analysed by immunohistochemical techniques, taking the levels expressed in reactive lymphoid tissues as reference points. p53 gene point mutations (exons 5-8) were looked for using the PCR-SSCP technique and direct sequencing. Fifteen of the 57 cases studied showed 16 mutations at the p53 gene: 12 missense, one nonsense, two silent mutations, and one frameshift deletion. Most missense mutations were associated with high levels of p53 protein, while the nonsense mutations and frameshift deletion did not induce detectable levels of p53. All cases with mutation at the p53 gene (15) showed null or low levels of p21WAF1/CIP1 and MDM2 proteins, suggesting that null or missense mutations at this gene give rise to a protein that is unable to transactivate the p21WAF1/CIP1 and MDM2 genes. The association between missense p53 mutation and dissociate immunophenotype (p53+, MDM2-, p21-) was statistically significant (Fisher's exact test, P = 0.0024). This anomalous p53+, MDM2-, p21- phenotype was also found in a small group of five cases with wt p53; this could indicate that in these cases p53 transactivation capacity has been abrogated by a mechanism other than p53 mutation. Most cases with the wt p53 gene show simultaneous immunohistochemical expression of all three proteins and often display higher levels than those found in reactive lymphoid tissue. There is a tendency for EBV-positive cases to harbour high levels of p53+ and p21+, suggesting that EBV could be involved in the nuclear accumulation of p53 and p21WAF1/CIP1 in NHL.

Cyclin-Dependent Kinase Inhibitor p21↗
PubMed1997

Epstein-Barr virus in lymphoproliferative diseases in the sino-nasal region: close association with CD56+ immunophenotype and polymorphic-reticulosis morphology.

Association between Epstein-Barr virus (EBV) and nasal T-cell lymphoma (NTL) has been demonstrated. NTL has 2 types of histologic figures: one is ordinary non-Hodgkin's lymphoma (NHL) with monomorphous proliferation, and the other is polymorphic-reticulosis (PR) morphology. The presence of the EBV genome and its sub-types (A and B) were examined on paraffin-embedded specimens from 36 cases of sino-nasal lymphomas (SNL) collected from Seoul, Republic of Korea, where the frequency of NTL is high. Patients' ages ranged from 2 to 74 years (median 54 years) with a male-to-female ratio of 2.5:1. Immunophenotypically, 8 cases were B-cell type, 11 were T-cell type with CD56-, 14 were CD56+ type, and 3 were null-cell type. Five of 11 cases with ordinary NHL of T-cell type and 9 of 14 cases with PR were CD56+. The EBV genome was found by polymerase chain reaction (PCR) and in the tumor cells by in situ hybridization (ISH) in 1 of 4 B-cell type (25%), 5 of 10 T-cell type (50%), 11 of 13 CD56+ type (85%), and in both of null-cell type (100%). Of 16 cases with PR morphology, 15 (94%) were positive for the EBV genome. All of the 5 NTLs of ordinary NHL with CD56- were negative for EBV. Concerning the sub-type of EBV, 16 cases had type A, while none had type-B EBV. These findings suggest that NTL comprises 2 groups: EBV-positive NTLs are CD56+ and/or histologically PR, and EBV-negative NTLs are CD56- and histologically ordinary NHL. The current results on Korean patients, together with earlier studies on Japanese and Malaysian patients, have shown the predominance of type-A EBV in sino-nasal lymphoma in Asia.

Adolescent↗
PubMed1999

Immunophenotypic and genotypic characterization of nasal lymphoma with polymorphic reticulosis morphology.

Nasal lymphoma with polymorphic reticulosis (PR) morphology is now categorized as T/natural killer (T/NK) cell lymphoma. In this study, immunophenotypes and genotypes of proliferating cells in 21 cases with PR were examined. The patients included 13 men and 8 women ranging in age from 20 to 74 (median 37) years. All patients presented with lesions in the upper respiratory tract, mostly in the nasal cavity. Histological specimens obtained from the primary lesions (19 cases) and metastatic cervical lymph nodes (2 cases) were used for analyses. Histologically, polymorphous proliferation was found in 20 cases, and these were thus diagnosed as PR. A monomorphous pattern was found in the remaining last case. Immunohistochemical analysis revealed that the proliferating cells were CD56 (123C3)+ and/or CD16 (2H7)+, TIA-1+ and frequently stained CD3 epsilon+. Tumor cells were frequently stained positively with monoclonal antibodies (mAbs) for T lymphocytes, but were negative for T-cell receptor (TCR) beta and delta chain expression. In situ hybridization analysis using an Epstein-Barr virus-encoded early RNA 1 (EBER-1) probe revealed positive signals in 13 of the 15 cases examined. Southern blotting analysis for clonality of the Epstein-Barr virus (EBV) genome in 12 positive cases confirmed the presence of monoclonal proliferation in 7 cases. The pattern of TCR gamma chain gene rearrangement was examined by PCR analysis of DNA from tumor tissues by the denaturing gradient gel electrophoresis method. The results demonstrated no clonal rearrangement in any of the 21 cases examined, including 7 cases with proven clonal proliferation of EBV-infected cells, indicating the absence of T-cell clones. Our findings strongly suggested that nasal T-cell lymphoma is in fact a NK cell lymphoma.

Adult↗
PubMed1996

Flow cytometric immunophenotyping of non-Hodgkin's lymphomas and related disorders.

More than two decades have past since the recognition of non-Hodgkin's lymphomas (NHLs) as neoplasms of the immune system. During that time, a vast literature and knowledge base regarding the immunophenotypic and functional characteristics of neoplastic lymphocytes has been developed. Despite the accumulated wealth of knowledge, there remains no consensus as to the exact role of immunotypic and genotypic ancillary procedures in the evaluation of a lymph node biopsy. We review selected literature in this regard and provide an overview of the role of multicolor flow cytometry in establishing the diagnosis of specific NHL and related disorders.

B-Lymphocytes↗
PubMed1998

Detection of HIV-RNA-positive monocytes in peripheral blood of HIV-positive patients by simultaneous flow cytometric analysis of intracellular HIV RNA and cellular immunophenotype.

Determinations of plasma HIV viral RNA copy numbers help to define the kinetics of HIV-1 infection in vivo and to monitor antiretroviral therapy. However, questions remain regarding the identity of various infected cell types contributing to this free virus pool and to the in vivo lifecycle of HIV during disease progression. Characterization of a novel fluorescence in situ hybridization (FISH) assay employing a pool of labeled oligonucleotide probes directed against HIV RNA was done followed by coupling of the FISH assay with simultaneous surface immunophenotyping to address these questions. In vitro characterizations of this assay using tumor necrosis factor-alpha stimulated and unstimulated ACH-2 cells demonstrated the ability to detect < 5% HIV RNA positive cells with a sensitivity of < 30 RNA copies per cell. Peripheral blood mononuclear cells from 39 HIV-seropositive patients on no, single, combination, or triple drug therapy and 8 HIV-seronegative patients were examined. The majority of HIV-positive patients (24/39) harbored monocytes positive for HIV RNA and a significantly higher fraction of patients with high plasma viral load carried positive monocytes (13/16) than did patients in the low plasma viral load group (11/23). These results demonstrate the effectiveness of a novel FISH assay for identifying and monitoring HIV-infected cell populations in the peripheral blood of HIV-positive patients. In addition, monocytes are a major source of cellular HIV virus in the peripheral blood of HIV patients, even with progression of disease.

Cell Line↗
PubMed1999

Effects of thermal exposure on immunophenotyping combined with in situ PCR, measured by flow cytometry.

BACKGROUND: The combination of in situ PCR and cell phenotyping by antibody labeling (ISPCR/Flow) allows for the identification of cell subsets carrying a particular genetic sequence. ISPCR utilizes thermal cycling for genetic amplification, which can reduce the effectiveness of surface antibody labeling. This study explored and characterized the effects of thermal exposure on antibody labeling using CD4 and CD45. METHODS: Single temperature incubations and thermal cycling exposures were performed on leukocytes labeled with either direct antibody conjugates or with biotinylated antibodies and PE-streptavidin. RESULTS: Fluorescence emission decreased above 70 degrees ( )C when cells were stained with directly conjugated antibodies or a biotinylated antibody and PE-streptavidin prior to high heat exposure. If counter stained with PE-streptavidin after heat, fluorochrome fluorescence was detectable. We tested a second CD4 clone, that provided poor results under similar labeling conditions, suggesting the combination of fixation and heat may have an epitope specific effect for the same cellular antigen. CONCLUSIONS: Immunophenotyping can be combined with ISPCR, but each antibody must be tested to determine its efficacy. The denaturation of protein above 70 degrees C appears to be the main reason for loss of fluorescence. The best procedure is to first stain cells with a biotinylated antibody to an epitope that survives fixation and thermocycling. The cells are then subjected to the desired PCR procedure. Finally they are stained with a fluorochrome conjugated streptavidin.

Antibodies↗
PubMed1999

Comparative study of five commercial reagents for preparing normal and leukaemic lymphocytes for immunophenotypic analysis by flow cytometry.

The flow cytometric analysis of leucocytes in whole blood is usually performed on samples in which the erythrocytes have been lysed and the leucocytes fixed. Because lysis and fixation reagents have the potential to introduce artefacts, several commercially available reagents were used to prepare normal and leukaemic lymphocytes for immunophenotypic analysis by flow cytometry, and the results were compared with those obtained from live whole blood. The reagents tested were the ImmunoPrep system and OptiLyse C (Coulter), LF-1000-Lyse and Flow (Harlan), Uti-Lyse (Dako) and FACS Lysing Solution (Becton Dickinson). The effect of each reagent on the apparent expression of CD3, CD5, CD11b, CD45, FMC7, kappa and lambda antigens was determined on lymphocytes from six normal controls and from six patients with chronic lymphocytic leukaemia (CLL). The following observations were made: (i) the time in minutes for each procedure varied markedly and was 1.5, 15, 20, 30 and 30 for the ImmunoPrep system, OptiLyse C, Uti-Lyse, FACS Lysing Solution, and LF-1000, respectively, but only 0.5 min for live whole blood. (ii) The forward and side scatter characteristics were affected by all of the lysis and fixation procedures, and this was most marked for LF-1000-Lyse and Flow. (iii) OptiLyse C gave preparations with poor forward and side scatter resolution due to the presence of residual red cell fragments. (iv) Lysis and fixation procedures did not affect the apparent expression of the CD3, CD45, or FMC7 antigens on normal or CLL samples, but gave highly variable results for the expression of the CD5, CD11b, kappa, and lambda antigens on the CLL samples. We conclude that lysis and fixation procedures can introduce different artefacts in the analysis of normal and leukaemic samples that are best avoided by analysing live whole blood.

Aged↗
PubMed1999

Evaluation of stabilized whole blood control materials for lymphocyte immunophenotyping.

We evaluated stabilized whole blood control materials for their performance as a routine control material for immunophenotyping using flow cytometry. These materials serve as the method control, controlling for both the binding of monoclonal antibodies to the cells and the efficiency of the red-blood-cell lysing reagent. Three products (FluoroTrol, StatusFlow, and CD-Chex): were tested. The controls performed very well in evaluating both CD4 and CD8 percentages and absolute cell counts using flow cytometry. Light scattering patterns and fluorescence intensity of antibody binding were slightly different from those of normal whole blood. These products are not appropriate for quantitative fluorescence standards. Cytometry (Comm. Clin. Cytometry) 38:268-273, 1999. Published 1999 Wiley-Liss, Inc.

Blood Chemical Analysis↗
PubMed1997

Combining fine-needle aspiration and flow cytometric immunophenotyping in evaluation of nodal and extranodal sites for possible lymphoma: a retrospective review.

The relatively recent evaluation of nodal and extranodal sites for malignant lymphoma by combining fine-needle aspiration (FNA) and flow cytometric immunophenotyping (FCI) techniques has resulted in a most rapid, accurate method. Our study represents a comprehensive retrospective review of in vivo applications of these techniques to cases suspicious for malignant lymphoma. We report our findings, which support the usefulness of these techniques, particularly in diagnosis and staging of primary and recurrent B-cell lymphomas (BCL). The findings of necrosis and numerous polymorphonuclear cells in cases with a previous history of BCL demand tissue biopsy. Initial diagnosis of BCL by FNA and FCI may obviate tissue biopsy.

Biopsy, Needle↗
PubMed1991

Ki-1-positive large cell lymphomas, a heterogenous group of neoplasms. Morphologic, immunophenotypic, genotypic, and clinical features of 24 cases.

Clinical and pathologic features of 24 patients with large cell lymphomas that expressed the activation antigen Ki-1 are described. Phenotypic and/or genotypic studies characterized these neoplasms as T-cell (16 cases), B-cell (six cases), or null cell (two cases) type. Males predominantly were affected. Age of patients ranged from 19 to 73 years, with a bimodal distribution, with peaks in the third and seventh decades. Lymphadenopathy was present in nearly all patients. Extranodal involvement, including skin, soft tissue, bone, central nervous system, lung, or small intestine was observed in a total of 54% of the patients, either at presentation or during the course of disease. "Prototypic" features of large cell anaplastic lymphomas were observed for eight T-cell lymphomas, with morphologic heterogeneity noted for the remainder. Eight patients, all with T-cell neoplasms (only one with prototypic morphology), have died of lymphoma (median survival, 5 months). An antecedent history of a lymphoproliferative disorder (mycosis fungoides, B-cell lymphoma, immunoblastic lymphadenopathy) was apparent in seven patients. An 8-year history of Crohn's disease occurred in one patient with a T-cell lymphoma involving small intestine. Phenotypically, loss of one or more markers was typically noted for T-cell neoplasms. Leukocyte common antigen was detected in all cases, although partial loss of immunoreactivity was noticed in some cases. Nearly all cases evaluated for Ia antigen or alpha-1-antichymotrysin were reactive. Eleven of 16 T-cell, two of six B-cell, and two null cell lymphomas expressed epithelial membrane antigen. Ki-1-positive large cell lymphomas are characterized by clinical, morphologic, and immunophenotypic heterogeneity.

Adult↗
PubMed1992

Choroid plexus tumors in childhood. Response to chemotherapy, and immunophenotypic profile using a panel of monoclonal antibodies.

Clinical and immunophenotypic (IP) data are presented on three children with choroid plexus (CP) tumors. Two children ages 0.2 and 2 years old with histologically proven malignant tumors had subtotal tumor resections and were treated with ten monthly cycles of eight-drugs-in-1-day chemotherapy without radiation therapy (XRT). Both are free of tumor 4 and 7 years later. The literature on survival of children with CP carcinomas after chemotherapy and XRT is reviewed. Monoclonal antibodies to 17 neuroectodermal, neuronal, glial, and leukocytic markers on frozen sections were used to IP the two malignant tumors and a CP papilloma. All tumors expressed two neuroectodermal markers (PI-153/3 and UJ 223.8), cytokeratin 19, and a neural and leukocyte marker (Thy-1). Two of three expressed neurofilament protein (NF-H) and glial fibrillary acidic protein (GFAP) and one expressed NF-M and common leukocyte antigen. None had strong expression for the panneuroectodermal antigen UJ13/A. There was variable expression of the other markers. The most common IP profile for CP tumors (cytokeratin 18+, PI-153/3+, Thy-1+, UJ 223.8+, and GFAP+ and UJ13A-, UJ 127.11-, and NF-L-) is discussed in the context of the current knowledge of the ontogenetic origin of the CP. It was concluded that chemotherapy for malignant CP tumors can be associated with long-term survival in young children and that the unique IP profile of CP tumors with coexpression of three intermediate filaments suggests new and provocative evidence of their cellular complexity and heterogeneity.

Antibodies, Monoclonal↗
PubMed1992

Immunophenotyping of subtypes of B-chronic (mature) lymphoid leukemia. A study of 242 cases.

BACKGROUND: The French-American-British group's proposal for the classification of chronic lymphoid leukemias is unique at this time. Testing, expanding, and adding to the theory by immunophenotyping will help to additionally characterize this group of diseases. METHODS: Peripheral blood samples from 242 patients with chronic lymphoid leukemias were analyzed for immunologic evaluation of the following subtypes: typical chronic lymphocytic leukemia (CLL), 189; CLL with pleomorphic lymphocytes (CLL-pleo), 19; CLL of mixed cell type (CLL/PL), 20; prolymphocytic leukemia (PLL), 22; hairy cell leukemia (HCL), 10; HCL-variant, 1; and splenic lymphoma with villous lymphocytes, 1. RESULTS: The phenotype of CLL and CLL-pleo was weak surface immunoglobulin (SIg) with positive results of mouse rosettes (MR+), CD5+, and CD22-. Of PLL and HCL, it was strong SIg, MR-, CD5-, and CD22+. By analyzing the four markers and accepting the relevant results of two or more as sufficient for diagnosis, all cases (100%) of CLL, CLL-pleo, PLL, and HCL were diagnosed. CLL/PL showed the phenotype of CLL in 66.67% and of PLL in 33.33% of patients. The frequency of cases with weak fluorescence in decreasing order was CLL, CLL-pleo, CLL/PL, and PLL and HCL. The same sequence applied to the mean percentage of mouse rosette-forming cells and CD5 cells, but the sequence was reversed for CD22 cells. CONCLUSIONS: SIg intensity, MR, CD5, and CD22 constitute the minimum number of immune markers for the differential diagnosis of the subtypes of chronic lymphoid leukemia. The frequency of the four markers among the subtypes suggested that CLL and CLL-pleo have identical phenotypes and that the five subtypes follow a continuous range of B-cell differentiation from early mature (CLL and CLL-pleo) to late mature pre-plasma cell stages (PLL followed by HCL), with CLL/PL of intermediate maturity.

Adult↗
PubMed2000

Clinical application of four and five-color flow cytometry lymphocyte subset immunophenotyping.

A 1995 survey of clinical flow cytometry laboratories in the United States determined that 63% of clinical laboratories used one or two-color, 33% used three-color, 4% used four-color, and none used five-color panels. We show the feasibility and advantages of acquiring routine clinical four-color, six-parameter and five-color, seven-parameter analysis on blood samples derived from a pediatric population. The panels were evaluated by comparing the following cell characteristics: size, internal structure, and up to five distinct fluorochrome-conjugated antibodies to cell surface antigens: CD3, CD16+CD56, CD19, CD8, and CD4. These samples were processed on a commercially available instrument without any special modifications. A comparison of two-color and four-color as well as four-color and five-color panel analysis showed no statistical difference between the groups. We propose that the five-color, single-tube panel will (1) eliminate the need for isotype controls; (2) the relative proportions of lymphocyte subpopulations may be used to validate the operator-defined window, replacing CD45; (3) eliminate the need to run a common factor, in order to establish and maintain a reproducible lymphocyte window between tubes; and (4) create a more complete clinical picture by generating 32 unique, mutually exclusive phenotypes (permutations). Our results show that it is feasible to acquire and integrate seven-parameter data. This may be a powerful tool for immunophenotyping cells in a modern clinical diagnostic cytometry laboratory.

Antigens, CD↗
PubMed2001

A unified procedure for conservative (morphology) and integral (DNA and immunophenotype) cell staining for flow cytometry.

BACKGROUND: Current methods for multiparameter DNA flow cytometry suffer from several limitations. These include significant modifications of cell morphological parameters, the impossibility to counterstain cells with certain fluorochromes, and laborious tuning of the instrument that, for some procedures, must be equipped with an ultraviolet (UV) laser. To overcome these problems, we developed a novel method for the simultaneous analysis of morphological parameters, four-color immunophenotyping, and stoichiometric DNA labeling using a bench-top flow cytometer. METHODS: The method consists of a mild permeabilization/fixation treatment at room temperature, followed by labeling with fluorochrome-conjugated monoclonal antibodies (mAbs) and with the DNA dye 7-aminoactinomycin D (7-AAD) at 56 degrees C. RESULTS: Using this method, we analyzed resting peripheral blood mononucleated cells (PBMC), proliferating T cells cultured in the presence of interleukin-2 (IL-2), and lymphoblastoid B cells. Lymphocytes, monocytes, and lymphoblasts treated by this procedure retained differential light scattering (DLS) characteristics virtually identical to those of untreated cells. This allowed regions to be drawn on forward scatter (FSC) and side scatter (SSC) cytograms resolving different cell populations. DLS were preserved well enough to distinguish large lymphoblasts in the S or G2/M phases from small G0/G1 cells. Also, stainability with fluorescein-isothiocyanate (FITC), R-phycoerythrin (PE), allophycocyanin (APC)-conjugated mAbs was generally preserved. DNA labeling with 7-AAD was of quality good enough to permit accurate cell cycle analysis. CONCLUSIONS: The method described here, which we called integral hot staining (IHS), represents a very simple, reproducible, and conservative assay for multiparameter DNA analysis using a bench-top flow cytometer. Last but not least, the cytometer tuning for multiparameter acquisition is straightforward.

B-Lymphocytes↗
PubMed2001

The peri-implant breast capsule: an immunophenotypic study of capsules taken at explantation surgery.

Silicone-based breast implants continue to be the focus of many studies attempting to correlate implant failure to clinical and pathological factors. Routine pathology of peri-implant capsule is extensively described in the literature. The actual significance of the cellular events remains unconfirmed, particularly with reference to clinical outcome. This study reviews our experience with explanted capsules. The study makes specific reference to the immunohistochemistry of the cells participating in the capsule and the significance of the immunophenotypic characterization of these cells to clinical outcome. The use of a wide selection of immunomarkers for T and B lymphocytes and histiocytes provided no supporting evidence for local cell participation in the capsule, which may indicate the presence of an immunological reaction present in the capsule at the time of explantation. One was only able to confirm the presence of a low grade inflammatory process and progression to fibrosis and calcification over time. Statistical correlation was obtained only between Baker grade of capsular contracture and CD3/CD68 immunomarker positivity. CD45RO did show correlation with pain. No correlation was demonstrated with calcification. The results obtained in this study highlighted the need for further investigations into the mechanism of histiocyte and fibrocyte recruitment and activation in the capsule, a possible source of pain and contracture, which is a serious long-term clinical finding leading to the necessity for explantation.

Adult↗
PubMed2000

Combined immunophenotyping and FISH identifies the involvement of B-cells in 5q- syndrome.

The 5q- syndrome is a distinct subtype of myelodysplastic syndrome (MDS) characterized by refractory anemia, deletion of the long arm of chromosome 5, del(5q), as the sole cytogenetic abnormality, and a low frequency of transformation to acute leukemia. Using combined immunophenotyping and fluorescence in situ hybridization (FISH), studies were carried out on bone marrow smears of three 5q- syndrome cases to identify the cell lineages carrying the 5q deletion. In all three cases, the granulocytic, monocytic, and erythroid lineages possessed the del(5q) clonal marker, whereas the T-lymphocytes did not. Interestingly, in one case, cells of B-lymphoid lineage also showed the presence of the del(5q). This is the first report to date showing involvement of an acquired 5q deletion associated with MDS in B-cells. This result suggests that in some cases, MDS arises in a multipotent cell with a capacity to differentiate into both myeloid and lymphoid cells.

Adult↗