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  1. Article ; Online: Analysis of the REL, BCL11A, and MYCN proto-oncogenes belonging to the 2p amplicon in chronic lymphocytic leukemia.

    Deambrogi, Clara / De Paoli, Lorenzo / Fangazio, Marco / Cresta, Stefania / Rasi, Silvia / Spina, Valeria / Gattei, Valter / Gaidano, Gianluca / Rossi, Davide

    American journal of hematology

    2010  Volume 85, Issue 7, Page(s) 541–544

    MeSH term(s) Aged ; Aged, 80 and over ; Carrier Proteins/genetics ; Chromosomes, Human, Pair 2 ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Genes, rel/genetics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/mortality ; Male ; Middle Aged ; N-Myc Proto-Oncogene Protein ; Nuclear Proteins/genetics ; Oncogene Proteins/genetics ; Prognosis ; Proto-Oncogenes/genetics ; Repressor Proteins ; Survival Analysis ; Up-Regulation
    Chemical Substances BCL11A protein, human ; Carrier Proteins ; MYCN protein, human ; N-Myc Proto-Oncogene Protein ; Nuclear Proteins ; Oncogene Proteins ; Repressor Proteins
    Keywords covid19
    Language English
    Publishing date 2010-06-23
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.21742
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  2. Article ; Online: BCL3 translocation in CLL with typical phenotype: assessment of frequency, association with cytogenetic subgroups, and prognostic significance.

    Rossi, Davide / Deambrogi, Clara / Monti, Sara / Cresta, Stefania / De Paoli, Lorenzo / Fangazio, Marco / Giardini, Ilaria / Bernasconi, Paolo / Gaidano, Gianluca

    British journal of haematology

    2010  Volume 150, Issue 6, Page(s) 702–704

    MeSH term(s) Adult ; Aged ; Female ; Humans ; Immunophenotyping ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Male ; Middle Aged ; Prognosis ; Proto-Oncogene Proteins/genetics ; Transcription Factors/genetics ; Translocation, Genetic
    Chemical Substances Proto-Oncogene Proteins ; Transcription Factors ; proto-oncogene protein bcl-3
    Language English
    Publishing date 2010-09
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/j.1365-2141.2010.08255.x
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  3. Article ; Online: Analysis of SF3B1 mutations in monoclonal B-cell lymphocytosis.

    Greco, Mariangela / Capello, Daniela / Bruscaggin, Alessio / Spina, Valeria / Rasi, Silvia / Monti, Sara / Ciardullo, Carmela / Cresta, Stefania / Fangazio, Marco / Gaidano, Gianluca / Foà, Robin / Rossi, Davide

    Hematological oncology

    2013  Volume 31, Issue 1, Page(s) 54–55

    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Chromosome Deletion ; Clone Cells/pathology ; DNA Mutational Analysis ; Disease Progression ; Female ; Genes, p53 ; Humans ; Immunoglobulin Heavy Chains/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Male ; Middle Aged ; Monoclonal Gammopathy of Undetermined Significance/genetics ; Monoclonal Gammopathy of Undetermined Significance/pathology ; Mutation, Missense ; Phosphoproteins/genetics ; Point Mutation ; RNA Splicing Factors ; Receptor, Notch1/genetics ; Ribonucleoprotein, U2 Small Nuclear/genetics ; Risk
    Chemical Substances Immunoglobulin Heavy Chains ; NOTCH1 protein, human ; Phosphoproteins ; RNA Splicing Factors ; Receptor, Notch1 ; Ribonucleoprotein, U2 Small Nuclear ; SF3B1 protein, human
    Language English
    Publishing date 2013-03
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 604884-5
    ISSN 1099-1069 ; 0278-0232
    ISSN (online) 1099-1069
    ISSN 0278-0232
    DOI 10.1002/hon.2013
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  4. Article ; Online: 14q32 Translocations and risk of Richter transformation in chronic lymphocytic leukaemia.

    Deambrogi, Clara / Cresta, Stefania / Cerri, Michaela / Rasi, Silvia / De Paoli, Lorenzo / Ramponi, Antonio / Gaidano, Gianluca / Rossi, Davide

    British journal of haematology

    2009  Volume 144, Issue 1, Page(s) 131–133

    MeSH term(s) Aged ; Chromosomes, Human, Pair 14 ; Female ; Follow-Up Studies ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Male ; Middle Aged ; Risk ; Translocation, Genetic
    Language English
    Publishing date 2009-01
    Publishing country England
    Document type Comment ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/j.1365-2141.2008.07398.x
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  5. Article: JAK2V617F in idiopathic venous thromboembolism occurring in the absence of inherited or acquired thrombophilia.

    Rossi, Davide / Cresta, Stefania / Destro, Tamara / Vendramin, Chiara / Bocchetta, Simone / De Paoli, Lorenzo / Cerri, Michaela / Lunghi, Monia / Gaidano, Gianluca

    British journal of haematology

    2007  Volume 138, Issue 6, Page(s) 813–814

    MeSH term(s) Adult ; Aged ; Female ; Humans ; Janus Kinase 2/genetics ; Male ; Middle Aged ; Mutation ; Pulmonary Embolism/genetics ; Thromboembolism/genetics ; Thrombophilia
    Chemical Substances JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2007-09
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/j.1365-2141.2007.06715.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Saliva is a reliable and practical source of germline DNA for genome-wide studies in chronic lymphocytic leukemia.

    Rasi, Silvia / Bruscaggin, Alessio / Rinaldi, Andrea / Cresta, Stefania / Fangazio, Marco / De Paoli, Lorenzo / Monti, Sara / Gargiulo, Ernesto / Kwee, Ivo / Foà, Robin / Bertoni, Francesco / Gaidano, Gianluca / Rossi, Davide

    Leukemia research

    2011  Volume 35, Issue 10, Page(s) 1419–1422

    Abstract: High-throughput genomics requires tumor DNA matched to germline DNA, that cannot be easily obtained in the context of leukemia. Using chronic lymphocytic leukemia as a model, saliva DNA was frequently devoid of tumor DNA also during overt disease, and ... ...

    Abstract High-throughput genomics requires tumor DNA matched to germline DNA, that cannot be easily obtained in the context of leukemia. Using chronic lymphocytic leukemia as a model, saliva DNA was frequently devoid of tumor DNA also during overt disease, and passed quality controls for SNP-array (77/102, 75.4%) and next generation sequencing (71/102, 69.6%). Compared to saliva, urine provides germline DNA of similar quality but in lower amounts. Saliva DNA was successfully run on SNP 6.0 arrays, and passed quality control call rate thresholds. On these bases, saliva represents a useful source of germline DNA for high-throughput genomic studies of hematologic neoplasia.
    MeSH term(s) DNA/urine ; Genome, Human ; Genome-Wide Association Study/methods ; Genomics/methods ; High-Throughput Screening Assays ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Saliva/chemistry ; Sequence Analysis, DNA
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2011-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 752396-8
    ISSN 1873-5835 ; 0145-2126
    ISSN (online) 1873-5835
    ISSN 0145-2126
    DOI 10.1016/j.leukres.2011.05.024
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  7. Article ; Online: The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.

    Arcaini, Luca / Rossi, Davide / Lucioni, Marco / Nicola, Marta / Bruscaggin, Alessio / Fiaccadori, Valeria / Riboni, Roberta / Ramponi, Antonio / Ferretti, Virginia V / Cresta, Stefania / Casaluci, Gloria Margiotta / Bonfichi, Maurizio / Gotti, Manuel / Merli, Michele / Maffi, Aldo / Arra, Mariarosa / Varettoni, Marzia / Rattotti, Sara / Morello, Lucia /
    Guerrera, Maria Luisa / Sciarra, Roberta / Gaidano, Gianluca / Cazzola, Mario / Paulli, Marco

    Haematologica

    2015  Volume 100, Issue 2, Page(s) 246–252

    Abstract: Hepatitis C virus has been found to be associated with B-cell non-Hodgkin lymphomas, mostly marginal zone lymphomas and diffuse large B-cell lymphoma. Deregulation of signaling pathways involved in normal marginal zone development (NOTCH pathway, NF-κB, ... ...

    Abstract Hepatitis C virus has been found to be associated with B-cell non-Hodgkin lymphomas, mostly marginal zone lymphomas and diffuse large B-cell lymphoma. Deregulation of signaling pathways involved in normal marginal zone development (NOTCH pathway, NF-κB, and BCR signaling) has been demonstrated in splenic marginal zone lymphoma. We studied mutations of NOTCH pathway signaling in 46 patients with hepatitis C virus-positive diffuse large B-cell lymphoma and in 64 patients with diffuse large B-cell lymphoma unrelated to HCV. NOTCH2 mutations were detected in 9 of 46 (20%) hepatitis C virus-positive patients, and NOTCH1 mutations in 2 of 46 (4%). By contrast, only one of 64 HCV-negative patients had a NOTCH1 or NOTCH2 mutation. The frequency of the NOTCH pathway lesions was significantly higher in hepatitis C virus-positive patients (P=0.002). The 5-year overall survival was 27% (95%CI: 5%-56%) for hepatitis C virus-positive diffuse large B-cell lymphoma patients carrying a NOTCH pathway mutation versus 62% (95%CI: 42%-77%) for those without these genetic lesions. By univariate analysis, age over 60 years, NOTCH2 mutation, and any mutation of the NOTCH pathway (NOTCH2, NOTCH1, SPEN) were associated with shorter overall survival. Mutation of the NOTCH pathway retained an independent significance (P=0.029). In conclusion, a subset of patients with hepatitis C virus-positive diffuse large B-cell lymphoma displays a molecular signature of splenic marginal zone and has a worse clinical outcome.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Female ; Follow-Up Studies ; Hepacivirus/isolation & purification ; Hepatitis C/genetics ; Hepatitis C/mortality ; Hepatitis C/pathology ; Hepatitis C/virology ; Homeodomain Proteins/genetics ; Humans ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/mortality ; Lymphoma, Large B-Cell, Diffuse/pathology ; Lymphoma, Large B-Cell, Diffuse/virology ; Male ; Middle Aged ; Mutation/genetics ; Neoplasm Grading ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/mortality ; Neoplasm Recurrence, Local/pathology ; Neoplasm Recurrence, Local/virology ; Nuclear Proteins/genetics ; Polymerase Chain Reaction ; Prognosis ; Receptor, Notch1/genetics ; Receptor, Notch2/genetics ; Survival Rate
    Chemical Substances Biomarkers, Tumor ; Homeodomain Proteins ; NOTCH1 protein, human ; NOTCH2 protein, human ; Nuclear Proteins ; Receptor, Notch1 ; Receptor, Notch2 ; SPEN protein, human
    Language English
    Publishing date 2015-02
    Publishing country Italy
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2014.116855
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  8. Article ; Online: MGA, a suppressor of MYC, is recurrently inactivated in high risk chronic lymphocytic leukemia.

    De Paoli, Lorenzo / Cerri, Michaela / Monti, Sara / Rasi, Silvia / Spina, Valeria / Bruscaggin, Alessio / Greco, Mariangela / Ciardullo, Carmela / Famà, Rosella / Cresta, Stefania / Maffei, Rossana / Ladetto, Marco / Martini, Maurizio / Laurenti, Luca / Forconi, Francesco / Marasca, Roberto / Larocca, Luigi M / Bertoni, Francesco / Gaidano, Gianluca /
    Rossi, Davide

    Leukemia & lymphoma

    2012  Volume 54, Issue 5, Page(s) 1087–1090

    MeSH term(s) Base Sequence ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Gene Deletion ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/metabolism ; Mutation ; Proto-Oncogene Proteins c-myc/genetics ; Proto-Oncogene Proteins c-myc/metabolism
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; MGA protein, human ; Proto-Oncogene Proteins c-myc
    Language English
    Publishing date 2012-11-12
    Publishing country United States
    Document type Letter
    ZDB-ID 1042374-6
    ISSN 1029-2403 ; 1042-8194
    ISSN (online) 1029-2403
    ISSN 1042-8194
    DOI 10.3109/10428194.2012.723706
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    Zs.A 2997: Show issues Location:
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  9. Article ; Online: Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome.

    Rossi, Davide / Rasi, Silvia / Spina, Valeria / Fangazio, Marco / Monti, Sara / Greco, Mariangela / Ciardullo, Carmela / Famà, Rosella / Cresta, Stefania / Bruscaggin, Alessio / Laurenti, Luca / Martini, Maurizio / Musto, Pellegrino / Forconi, Francesco / Marasca, Roberto / Larocca, Luigi M / Foà, Robin / Gaidano, Gianluca

    British journal of haematology

    2012  Volume 158, Issue 3, Page(s) 426–429

    MeSH term(s) Aged ; Genetic Predisposition to Disease ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/pathology ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/pathology ; Mutation ; Phosphoproteins/genetics ; RNA Splicing Factors ; Receptor, Notch1/genetics ; Ribonucleoprotein, U2 Small Nuclear/genetics ; Syndrome
    Chemical Substances NOTCH1 protein, human ; Phosphoproteins ; RNA Splicing Factors ; Receptor, Notch1 ; Ribonucleoprotein, U2 Small Nuclear ; SF3B1 protein, human
    Language English
    Publishing date 2012-08
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/j.1365-2141.2012.09155.x
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  10. Article: The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of Del17p13: implications for overall survival and chemorefractoriness.

    Rossi, Davide / Cerri, Michaela / Deambrogi, Clara / Sozzi, Elisa / Cresta, Stefania / Rasi, Silvia / De Paoli, Lorenzo / Spina, Valeria / Gattei, Valter / Capello, Daniela / Forconi, Francesco / Lauria, Francesco / Gaidano, Gianluca

    Clinical cancer research : an official journal of the American Association for Cancer Research

    2009  Volume 15, Issue 3, Page(s) 995–1004

    Abstract: Purpose: Del17p13 predicts poor outcome and chemorefractoriness in chronic lymphocytic leukemia (CLL). Conversely, it is unknown whether TP53 mutations carry any prognostic value independent of del17p13. We tested the independent prognostic value of ... ...

    Abstract Purpose: Del17p13 predicts poor outcome and chemorefractoriness in chronic lymphocytic leukemia (CLL). Conversely, it is unknown whether TP53 mutations carry any prognostic value independent of del17p13. We tested the independent prognostic value of TP53 mutations in CLL.
    Experimental design: The study was based on a consecutive series of 308 CLL. DNA sequencing of TP53 exons 2 to 10 and del17p13 interphase fluorescence in situ hybridization were done at CLL diagnosis. Study end points were survival and chemorefractoriness.
    Results: At diagnosis, TP53 mutations (n = 32) occurred in 31 of 308 (10.0%) patients. Of all CLL showing TP53 disruption by either mutation and/or deletion (n = 44), 10 cases (22.7%) showed TP53 mutations in the absence of del17p13. Multivariate analysis selected TP53 mutations (hazard ratio, 3.20; P = 0.002) as an independent predictor of overall survival after adjustment for del17p13. Also, multivariate analysis selected TP53 mutations (hazard ratio, 3.97; P < 0.001) as an independent predictor of chemorefractoriness after adjustment for del17p13. Compared with cases without TP53 alterations, CLL harboring any type of TP53 disruption (mutation only, del17p13 only, or both mutation and del17p13) uniformly displayed a high prevalence of unfavorable prognosticators and poor outcome. Analysis of sequential CLL samples showed the acquisition of new or additional TP53 alterations at the time of chemorefractoriness.
    Conclusions: These data show that (a) TP53 mutations are an independent predictor of short survival and chemorefractoriness, and (b) that CLL presenting with TP53 mutations without del17p13 fare as poorly as CLL carrying del17p13. Because CLL harboring TP53 mutations without del17p13 are currently not recognized by conventional diagnostic strategies, these results may be relevant for a comprehensive prognostic characterization of CLL.
    MeSH term(s) Aged ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; Drug Resistance, Neoplasm/genetics ; Female ; Genes, p53 ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/drug therapy ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/mortality ; Male ; Middle Aged ; Mutation ; Prognosis
    Language English
    Publishing date 2009-02-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1225457-5
    ISSN 1557-3265 ; 1078-0432
    ISSN (online) 1557-3265
    ISSN 1078-0432
    DOI 10.1158/1078-0432.CCR-08-1630
    Database MEDical Literature Analysis and Retrieval System OnLINE

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