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5 results on '"B-CELL LYMPHOCYTOSIS"'

1. Genetic drivers in the natural history of chronic lymphocytic leukemia development as early as 16 years before diagnosis

Author

Kolijn, P Martijn, Späth, Florentin, Khouja, Mouhamad, Hengeveld, Paul J, Van Der Straten, Lina, Darzentas, Nikos, Hultdin, Magnus, McKay, James, Pott, Christiane, Vermeulen, Roel C H, Langerak, Anton W, Kolijn, P Martijn, Späth, Florentin, Khouja, Mouhamad, Hengeveld, Paul J, Van Der Straten, Lina, Darzentas, Nikos, Hultdin, Magnus, McKay, James, Pott, Christiane, Vermeulen, Roel C H, and Langerak, Anton W

Abstract

Chronic lymphocytic leukemia (CLL) is preceded by monoclonal B-cell lymphocytosis (MBL), a potential CLL precursor state which can be detected in up to 17% in aged individuals. Recently, we described significant B-cell receptor immunoglobulin heavy chain (BCR IGH) gene repertoire skewing and clonotypic evolution up to 22 years before CLL diagnosis. However, pathobiological drivers during the earliest stages of MBL development remain incompletely characterized. In this study, we utilized the EuroClonality-NDC panel to sequence recurrently mutated genes in CLL in 39 peripheral blood samples from 16 CLL patients sampled up to 16 years prior to diagnosis. CLL diagnosis ranged from 5 months to 16 years after first blood sampling. Of 16 CLL patients, 8 (50%) presented with variants of interest in genes recurrently mutated in CLL such as NOTCH1, ATM, and SF3B1 . ATM variants and the IGLV3-21R110 mutation were present from the early stages of (pre)MBL development, while NOTCH1, SF3B1, and XPO1 variants arose closer to diagnosis. We additionally detected variants in FAT1 and PLCG2 as early as 10 years prior to CLL diagnosis. Overall, our data shows specific genetic drivers of CLL are associated with early and late stages of CLL development.

Published
2023

2. Detection of monoclonal B cells in general population from two different regions of Mexico.

Author

Rodríguez‐Preciado, Sergio Yair, Magaña‐Torres, María Teresa, Jaloma Cruz, Ana Rebeca, and Barros‐Núñez, Patricio

Subjects
*B cells, *LYMPHOCYTOSIS, *NUCLEIC acid isolation methods, *POLYMERASE chain reaction, *IMMUNOGLOBULIN heavy chains, *DISEASE prevalence
Abstract

To estimate the frequency of monoclonal B cells in Mexican general population from two different regions of Mexico. Monoclonal B cells were detected by rearrangements of the immunoglobulin heavy chains ( IGH) in 288 individuals: 188 from a metropolitan area and 100 from a rural area. After DNA extraction from peripheral blood by the CTAB/ DTAB method, multiplex PCR was used to amplify the IGH rearrangements, followed by capillary electrophoresis. In together, 9.4% of the studied individuals showed monoclonal B cells. This prevalence is significantly higher to those previously described for other populations, but similar to a report in the Spanish population. Among people from the metropolitan area, 12.8% exhibited monoclonal B cells in comparison with 3% of people from the rural area. All individuals showing monoclonal B cells were elder than 40 years. Higher frequency of incomplete monoclonal rearrangements was observed. Individuals from urban areas show significantly increased frequencies of monoclonal B cells regarding the people from the rural area. It is reasonable to believe that the environmental factor could have a greater impact on the development of monoclonality than the genetic component. [ABSTRACT FROM AUTHOR]

Published
2017
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3. Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

Author

Brohl, Andrew, Stinson, Jeffrey, Su, Helen, Badgett, Thomas, Jennings, Chester, Sukumar, Gauthaman, Sindiri, Sivasish, Wang, Wei, Kardava, Lela, Moir, Susan, Dalgard, Clifton, Moscow, Jeffrey, Khan, Javed, and Snow, Andrew

Subjects
*GERM cells, *GENETIC mutation, *B cells, *LYMPHOCYTOSIS, *PHENOTYPES, *CELL lines
Abstract

Purpose: Activating germline mutations in CARD11 have recently been linked to a rare genetic disorder associated with congenital B cell lymphocytosis. We describe a patient with a similar clinical phenotype who had a de novo germline G123D CARD11 mutation. Methods: Whole exome sequencing was performed on DNA from the patient and his biological parents. Laboratory studies examined characteristics of the patient's B and T lymphocytes. A CARD11 cDNA containing the mutation was transfected into a lymphocyte cell line to gain an understanding of its function. RNA sequencing was performed on samples from the patient and from patients with alternate germline CARD11 mutations and differential gene expression analysis was performed. Results: The patient had a decade-long history of severe polyclonal B lymphocytosis in the 20,000-90,000 lymphocytes/mm range, which was markedly exacerbated by EBV infection and splenectomy at different times. He had a heterozygous germline CARD11 mutation causing a G123D amino acid substitution, which was demonstrated to induce NF-κB activation in unstimulated lymphocytes. In contrast to previous patients with CARD11 mutations, this patient's B cells exhibited higher expression of several cell cycle progression genes, as well as enhanced proliferation and improved survival following B cell receptor stimulation. Conclusions: This is the third reported germline and first de novo CARD11 mutation shown to cause congenital B cell lymphocytosis. The mutation was associated with a dramatically greater lymphocytosis than in previously described cases, disproportionate to the level of constitutive NF-κB activation. However, comparative review of the patient's clinical history, combined with additional genomic and functional analyses, underscore other important variables that may affect pathophysiology or regulate mutant CARD11 function in B cell proliferation and disease. We now refer to these patients as having BENTA disease ( B cell Expansion with NF-κB and T cell Anergy). [ABSTRACT FROM AUTHOR]

Published
2015
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4. Serum levels of hsa‐miR‐16‐5p , hsa‐miR‐29a‐3p , hsa‐miR‐150‐5p , hsa‐miR‐155‐5p and hsa‐miR ‐ 223‐3p and subsequent risk of chronic lymphocytic leukemia in the EPIC study

Author

Heiner Boeing, María Arestin, Aurelio Barricarte, Delphine Casabonne, Elio Riboli, Roel Vermeulen, Carlo La Vecchia, Alexandra Nieters, Federico Canzian, Julie A. Schmidt, Matthias B. Schulze, María Armesto, Rosario Tumino, Yolanda Benavente, Rudolf Kaaks, Salvatore Panico, María José Sánchez, Anna Karakatsani, Pilar Amiano, Caroline Besson, Marc J. Gunter, Giovanna Masala, Carlotta Sacerdote, María Dolores Chirlaque, Silvia de Sanjosé, Valeria Pala, Anne Tjønneland, Charles H. Lawrie, Antonia Trichopoulou, Elisabete Weiderpass, Eric J. Duell, Fatemeh Saberi Hosnijeh, Anja Olsen, Vittorio Perduca, Julia Seifert, Francesca Mancini, Laura Costas, CIBER de Epidemiología y Salud Pública (CIBERESP), Catalan Institute of Oncology (ICO-IDIBELL), Facultat de Medicina [Barcelona], Centre Hospitalier de Versailles André Mignot (CHV), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut Gustave Roussy (IGR), Épidémiologie des radiations, épidémiologie clinique des cancers et survie (U1018 (Équipe 3) ), Institut Gustave Roussy (IGR)-Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Unit of Nutrition, Environment, and Cancer, Catalan Institute of Oncology, Department of Community Medicine, Faculty of Health Sciences, The Arctic University of Norway (UiT), Cancer Risk Factors and LifeStyle Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Division of Cancer Epidemiology, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Cancer Epidemiology, Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Mode de vie, génétique et santé : études intégratives et transgénérationnelles (U1018 (Équipe 9)), Epidemiology and Prevention Unit, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], WHO Collaborating Center for Nutrition and Health, Unit of Nutritional Epidemiology and Nutrition in Public Health, Dept of Hygiene, Epidemiology and Medical Statistics, University of Athens Medical School [Athens]-University of Athens Medical School [Athens], Hellenic Health Foundation, Department of Clinical Sciences and Community Health [Milan, Italy], Università degli Studi di Milano [Milano] (UNIMI), Civile - M.P.Arezzo Hospital, Nutrition and Metabolism Section, International Agency for Research on Cancer, Department of Clinical and Experimental Medicine, Università degli studi di Napoli Federico II, CPO Piemonte, Department of Epidemiology, German Institute of Human Nutrition (DIfE), German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE), School of Public Health [London, UK] (Faculty of Medicine), Imperial College London, Danish Cancer Society Research Center, Danish Cancer Society, Division of Environmental Epidemiology, Utrecht University [Utrecht]-Institute of Risk Assessment Sciences, Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, and Immunology

Subjects
Oncology, Male, DOWN-REGULATION, Cancer Research, PROGNOSIS, Chronic lymphocytic leukemia, ACTIVATION, 0302 clinical medicine, mir-223, Odds Ratio, Prospective Studies, Prospective cohort study, ComputingMilieux_MISCELLANEOUS, Area under the curve, Middle Aged, MIR-155, 3. Good health, European Prospective Investigation into Cancer and Nutrition, Up-Regulation, Europe, DIFFERENTIATION, INFECTIONS, 030220 oncology & carcinogenesis, embryonic structures, Monoclonal B-cell lymphocytosis, Female, B-CELL LYMPHOCYTOSIS, Life Sciences & Biomedicine, prospective study, EXPRESSION, medicine.medical_specialty, MICRORNA SIGNATURE, miR-155, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, medicine, Biomarkers, Tumor, Humans, 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, Liquid biopsy, Science & Technology, business.industry, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, body regions, circulating miRNA, MicroRNAs, Case-Control Studies, chronic lymphocytic leukemia, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, serum, CLL
Abstract

Chronic lymphocytic leukemia (CLL) is an incurable disease accounting for almost one-third of leukemias in the Western world. Aberrant expression of microRNAs (miRNAs) is a well-established characteristic of CLL, and the robust nature of miRNAs makes them eminently suitable liquid biopsy biomarkers. Using a nested case–control study within the European Prospective Investigation into Cancer and Nutrition (EPIC), the predictive values of five promising human miRNAs (hsa-miR-16-5p, hsa-miR-29a-3p, hsa-miR-150-5p, hsa-miR-155-5p and hsa-miR-223-3p), identified in a pilot study, were examined in serum of 224 CLL cases (diagnosed 3 months to 18 years after enrollment) and 224 matched controls using Taqman based assays. Conditional logistic regressions were applied to adjust for potential confounders. The median time from blood collection to CLL diagnosis was 10 years (p25–p75: 7–13 years). Overall, the upregulation of hsa-miR-150-5p, hsa-miR-155-5p and hsa-miR-29a-3p was associated with subsequent risk of CLL [OR1∆Ct-unit increase (95%CI) = 1.42 (1.18–1.72), 1.64 (1.31–2.04) and 1.75 (1.31–2.34) for hsa-miR-150-5p, hsa-miR-155-5p and hsa-miR-29a-3p, respectively] and the strongest associations were observed within 10 years of diagnosis. However, the predictive performance of these miRNAs was modest (area under the curve

Published
2020

5. Chromosome 2p gain in monoclonal B-cell lymphocytosis and in early stage chronic lymphocytic leukemia

Author

G. Ciceri, Anna Grazia Recchia, Agostino Cortelezzi, Serena Matis, Marta Lionetti, Monica Colombo, Marco Gobbi, Iolanda Vincelli, Fortunato Morabito, Maura Brugiatelli, Massimo Federico, Caterina Musolino, Nicola Di Renzo, Sonia Fabris, Emanuela Anna Pesce, Laura Mosca, Gianluca Festini, Ugo Consoli, Luca Agnelli, Alberto Fragasso, Manlio Ferrarini, Francesco Di Raimondo, Stefano Molica, Massimo Gentile, Maria Grazia Lipari, Francesco Maura, Giovanna Cutrona, Marzia Barbieri, Fiorella Ilariucci, Antonino Neri, Francesco Angrilli, and Francesca Romana Mauro

Subjects
Male, Chromosome 2p, B-cell lymphocytosis, chronic lymphocytic leukemia, Lymphocytosis, Chronic lymphocytic leukemia, CD38, PROGNOSTIC-FACTORS, LLC, Chromosome 2 p gain, monoclonal B-lymphocytosis, COMPARATIVE GENOMIC HYBRIDIZATION, Prospective Studies, CYTOGENETIC ABNORMALITIES, In Situ Hybridization, Fluorescence, Gene Expression Regulation, Leukemic, Hematology, Middle Aged, Prognosis, FOCAL ADHESION, Neoplasm Proteins, Up-Regulation, Leukemia, Chromosomes, Human, Pair 2, Monoclonal, Monoclonal B-cell lymphocytosis, Female, medicine.symptom, IGHV@, Chromosomes, Human, Pair 7, Adult, BREAST-CANCER METASTASIS, Biology, RHO-ASSOCIATED KINASE, DNA MICROARRAY, MULTIPLE-MYELOMA, Biomarkers, Tumor, medicine, Humans, Aged, Neoplasm Staging, BREAST-CANCER METASTASIS, RHO-ASSOCIATED KINASE, COMPARATIVE GENOMIC HYBRIDIZATION, GENE MUTATION STATUS, MULTIPLE-MYELOMA, CYTOGENETIC ABNORMALITIES, PROGNOSTIC-FACTORS, DNA MICROARRAY, FOCAL ADHESION, PROTEIN-KINASE, PROTEIN-KINASE, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Tumor progression, Immunology, Cancer research, GENE MUTATION STATUS
Abstract

Recent studies have described chromosome 2p gain as a recurrent lesion in chronic lymphocytic leukemia (CLL). We investigated the 2p gain and its relationship with common prognostic biomarkers in a prospective series of 69 clinical monoclonal B-cell lymphocytosis (cMBL) and 218 early stage (Binet A) CLL patients. The 2p gain was detected by FISH in 17 patients (6%, 16 CLL, and 1 cMBL) and further characterized by single nucleotide polymorphism-array. Overall, unfavorable cytogenetic deletions, i.e., del(11)(q23) and del(17)(p13) (P = 0.002), were significantly more frequent in 2p gain cases, as well as unmutated status of IGHV (P < 1 × 10(-4) ) and CD38 (P < 1 × 10(-4) ) and ZAP-70 positive expression (P = 0.003). Furthermore, 2p gain patients had significantly higher utilization of stereotyped B-cell receptors compared with 2p negative patients (P = 0.009), and the incidence of stereotyped subset #1 in 2p gain patients was significantly higher than that found in the remaining CLLs (P = 0.031). Transcriptional profiling analysis identified several genes significantly upregulated in 2p gain CLLs, most of which mapped to 2p. Among these, NCOA1 and ROCK2 are known for their involvement in tumor progression in several human cancers, whereas among those located in different chromosomes, CAV1 at 7q31.1 has been recently identified to play a critical role in CLL progression. Thus, 2p gain can be present since the early stages of the disease, particularly in those cases characterized by other poor prognosis markers. The finding of genes upregulated in the cells with 2p gain provides new insights to define the pathogenic role of this lesion.

Published
2013

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