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  1. Article ; Online: Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting.

    van Opijnen, Mark P / Broekman, Marike L D / Cuppen, Edwin / Dubbink, Hendrikus J / Ter Elst, Arja / van Eijk, Ronald / Mühlebner, Angelika / Jansen, Casper / van der Geize, Robert / Speel, Ernst-Jan M / Groenen, Patricia J T A / de Vos, Filip Y F / Wesseling, Pieter / de Leng, Wendy W J / Maas, Sybren L N

    Journal of neuro-oncology

    2024  Volume 166, Issue 3, Page(s) 485–492

    Abstract: Purpose: Next generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house ... ...

    Abstract Purpose: Next generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house produced or standardized panels, interlaboratory variation could play a role in the practice of HGG diagnosis and treatment. This study aimed to investigate the current practice in NGS application for both primary and recurrent HGG.
    Methods: This nationwide Dutch survey used the expertise of (neuro)pathologists and clinical scientists in molecular pathology (CSMPs) by sending online questionnaires on clinical and technical aspects. Primary outcome was an overview of panel composition in the different centers for diagnostic practice of HGG. Secondary outcomes included practice for recurrent HGG and future perspectives.
    Results: Out of twelve neuro-oncology centers, the survey was filled out by eleven (neuro)pathologists and seven CSMPs. The composition of the diagnostic NGS panels differed in each center with numbers of genes ranging from 12 to 523. Differences are more pronounced when tests are performed to find therapeutic targets in the case of recurrent disease: about half of the centers test for gene fusions (60%) and tumor mutational burden (40%).
    Conclusion: Current notable interlaboratory variations as illustrated in this study should be reduced in order to refine diagnostics and improve precision oncology. In-house developed tests, standardized panels and routine application of broad gene panels all have their own advantages and disadvantages. Future research would be of interest to study the clinical impact of variation in diagnostic approaches.
    MeSH term(s) Adult ; Humans ; Brain Neoplasms/diagnosis ; Brain Neoplasms/genetics ; Brain Neoplasms/drug therapy ; Glioma/diagnosis ; Glioma/genetics ; Glioma/drug therapy ; High-Throughput Nucleotide Sequencing ; Netherlands ; Precision Medicine
    Language English
    Publishing date 2024-01-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 604875-4
    ISSN 1573-7373 ; 0167-594X
    ISSN (online) 1573-7373
    ISSN 0167-594X
    DOI 10.1007/s11060-024-04568-8
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    Zs.A 1825: Show issues Location:
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  2. Article ; Online: Targeted DNA sequencing to identify genetic aberrations in glioblastoma that underlie venous thromboembolism; a cohort study.

    Kapteijn, Maaike Y / Kaptein, Fleur H J / Stals, Milou A M / Klaase, Eva E / García-Ortiz, Inés / van Eijk, Ronald / Ruano, Dina / van Duinen, Sjoerd G / Cannegieter, Suzanne C / Taphoorn, Martin J B / Dirven, Linda / Koekkoek, Johan A F / Klok, Frederikus A / Versteeg, Henri H / Buijs, Jeroen T

    Thrombosis research

    2022  Volume 221, Page(s) 10–18

    Abstract: Background and objectives: Patients with glioblastoma have a high risk of developing venous thromboembolism (VTE). However, the role of underlying genetic risk factors remains largely unknown. Therefore, the aim of this study was to discover whether ... ...

    Abstract Background and objectives: Patients with glioblastoma have a high risk of developing venous thromboembolism (VTE). However, the role of underlying genetic risk factors remains largely unknown. Therefore, the aim of this study was to discover whether genetic aberrations in glioblastoma associate with VTE risk.
    Methods: In this cohort study, all consecutive patients diagnosed with glioblastoma in two Dutch hospitals between February 2017 and August 2020 were included. Targeted DNA next-generation sequencing of all glioblastomas was performed for diagnostic purposes and included mutational status of the genes ATRX, BRAF, CIC, FUBP1, H3F3A, IDH1, IDH2, PIK3CA, PTEN and TP53 and amplification/gain or deletion of BRAF, CDKN2A, EGFR, NOTCH1 and PTEN. The primary outcome was VTE within three months before glioblastoma diagnosis until two years after. Cumulative incidences were determined using competing risk analysis adjusting for mortality. Univariable Cox regression analysis was performed to determine hazard ratios.
    Results: From 324 patients with glioblastoma, 25 were diagnosed with VTE. Patients with a CDKN2A deletion had a 12-month adjusted cumulative incidence of VTE of 12.5 % (95%CI: 7.3-19.3) compared with 5.4 % (95%CI: 2.6-9.6) in patients with CDKN2A wildtype (p = 0.020), corresponding to a HR of 2.53 (95%CI: 1.12-5.73, p = 0.026). No significant associations were found between any of the other investigated genes and VTE.
    Conclusion: This study suggests a potential role for CDKN2A deletion in glioblastoma-related VTE. Therefore, once independently validated, CDKN2A mutational status may be a promising predictor to identify glioblastoma patients at high risk for VTE, who may benefit from thromboprophylaxis.
    Language English
    Publishing date 2022-11-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 121852-9
    ISSN 1879-2472 ; 0049-3848
    ISSN (online) 1879-2472
    ISSN 0049-3848
    DOI 10.1016/j.thromres.2022.11.013
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    Zs.A 863: Show issues Location:
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  3. Article ; Online: Incidence and determinants of thrombotic and bleeding complications in patients with glioblastoma.

    Kaptein, Fleur H J / Stals, Milou A M / Kapteijn, Maaike Y / Cannegieter, Suzanne C / Dirven, Linda / van Duinen, Sjoerd G / van Eijk, Ronald / Huisman, Menno V / Klaase, Eva E / Taphoorn, Martin J B / Versteeg, Henri H / Buijs, Jeroen T / Koekkoek, Johan A F / Klok, Frederikus A

    Journal of thrombosis and haemostasis : JTH

    2022  Volume 20, Issue 7, Page(s) 1665–1673

    Abstract: Background: Glioblastoma patients are considered to be at high risk of venous thromboembolism (VTE) and major bleeding (MB), although reliable incidence estimates are lacking. Moreover, the risk of arterial thromboembolism (ATE) in these patients is ... ...

    Abstract Background: Glioblastoma patients are considered to be at high risk of venous thromboembolism (VTE) and major bleeding (MB), although reliable incidence estimates are lacking. Moreover, the risk of arterial thromboembolism (ATE) in these patients is largely unknown. Our aim was to assess the cumulative incidence, predictors, and prognostic impact of VTE, ATE, and MB on subsequent complications and mortality.
    Methods: Cohort study of 967 consecutive patients diagnosed with glioblastoma between 2004-2020 in two hospitals. Patients were followed from 6 months before date of histopathological glioblastoma diagnosis up to 2 years after, or until an outcome of interest (VTE, ATE, and MB) or death occurred, depending on the analysis. Cumulative incidences were estimated with death as competing risk. Cox regression was used to identify predictors and the prognostic impact.
    Results: A total of 101 patients were diagnosed with VTE, 50 with ATE, and 126 with MB during a median follow-up of 15 months (interquartile range 9.0-22). The adjusted 1-year cumulative incidence of VTE was 7.5% (95% confidence interval [CI] 5.9-9.3), of ATE 4.1% (95% CI 3.0-5.6), and of MB 12% (95% CI 9.6-14). Older age, type of surgery, and performance status were predictors of VTE. Incident VTE during follow-up was associated with MB (adjusted HR 4.7, 95% CI 2.5-9.0). MB and VTE were associated with mortality (adjusted HR 1.7, 95% CI 1.3-2.1 and 1.3, 95% CI 1.0-1.7, respectively).
    Conclusion: We found considerable incidences of VTE and MB in glioblastoma patients, with both complications associated with poorer prognosis. Our observations emphasize the need for prospective studies to determine optimal thromboprophylaxis and VTE treatment strategy in these patients.
    MeSH term(s) Anticoagulants/therapeutic use ; Cohort Studies ; Glioblastoma/complications ; Hemorrhage/diagnosis ; Hemorrhage/epidemiology ; Humans ; Incidence ; Prospective Studies ; Risk Factors ; Thrombosis/drug therapy ; Venous Thromboembolism/diagnosis ; Venous Thromboembolism/epidemiology ; Venous Thromboembolism/etiology
    Chemical Substances Anticoagulants
    Language English
    Publishing date 2022-05-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2112661-6
    ISSN 1538-7836 ; 1538-7933
    ISSN (online) 1538-7836
    ISSN 1538-7933
    DOI 10.1111/jth.15739
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    Zs.A 5805: Show issues Location:
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    Zs.MO 295: Show issues

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  4. Article ; Online: Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.

    de Haan, Lorraine M / de Groen, Ruben A L / de Groot, Fleur A / Noordenbos, Troy / van Wezel, Tom / van Eijk, Ronald / Ruano, Dina / Diepstra, Arjan / Koens, Lianne / Nicolae-Cristea, Alina / Hartog, Wietske C E den / Terpstra, Valeska / Ahsmann, Els / Dekker, Tim J A / Sijs-Szabo, Aniko / Veelken, Hendrik / Cleven, Arjen H G / Jansen, Patty M / Vermaat, Joost S P

    Virchows Archiv : an international journal of pathology

    2023  

    Abstract: Previous studies in patients with mature B-cell lymphomas (MBCL) have shown that pathogenic TP53 aberrations are associated with inferior chemotherapeutic efficacy and survival outcomes. In solid malignancies, p53 immunohistochemistry is commonly used as ...

    Abstract Previous studies in patients with mature B-cell lymphomas (MBCL) have shown that pathogenic TP53 aberrations are associated with inferior chemotherapeutic efficacy and survival outcomes. In solid malignancies, p53 immunohistochemistry is commonly used as a surrogate marker to assess TP53 mutations, but this correlation is not yet well-established in lymphomas. This study evaluated the accuracy of p53 immunohistochemistry as a surrogate marker for TP53 mutational analysis in a large real-world patient cohort of 354 MBCL patients within routine diagnostic practice. For each case, p53 IHC was assigned to one of three categories: wild type (staining 1-50% of tumor cells with variable nuclear staining), abnormal complete absence or abnormal overexpression (strong and diffuse staining > 50% of tumor cells). Pathogenic variants of TP53 were identified with a targeted next generation sequencing (tNGS) panel. Wild type p53 expression was observed in 267 cases (75.4%), complete absence in twenty cases (5.7%) and the overexpression pattern in 67 cases (18.9%). tNGS identified a pathogenic TP53 mutation in 102 patients (29%). The overall accuracy of p53 IHC was 84.5% (95% CI 80.3-88.1), with a robust specificity of 92.1% (95% CI 88.0- 95.1), but a low sensitivity of 65.7% (95% CI 55.7-74.8). These results suggest that the performance of p53 IHC is insufficient as a surrogate marker for TP53 mutations in our real-world routine diagnostic workup of MBCL patients. By using p53 immunohistochemistry alone, there is a significant risk a TP53 mutation will be missed, resulting in misevaluation of a high-risk patient. Therefore, molecular analysis is recommended in all MBCL patients, especially for further development of risk-directed therapies based on TP53 mutation status.
    Language English
    Publishing date 2023-10-18
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1184867-4
    ISSN 1432-2307 ; 0945-6317
    ISSN (online) 1432-2307
    ISSN 0945-6317
    DOI 10.1007/s00428-023-03676-6
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  5. Article ; Online: External Quality Assessment on Molecular Tumor Profiling with Circulating Tumor DNA-Based Methodologies Routinely Used in Clinical Pathology within the COIN Consortium.

    van der Leest, Paul / Rozendal, Pim / Hinrichs, John / van Noesel, Carel J M / Zwaenepoel, Karen / Deiman, Birgit / Huijsmans, Cornelis J J / van Eijk, Ronald / Speel, Ernst Jan M / van Haastert, Rick J / Ligtenberg, Marjolijn J L / van Schaik, Ron H N / Jansen, Maurice P H M / Dubbink, Hendrikus J / de Leng, Wendy W / Leers, Mathie P G / Tamminga, Menno / van den Broek, Daan / van Kempen, Léon C /
    Schuuring, Ed

    Clinical chemistry

    2024  

    Abstract: Background: Identification of tumor-derived variants in circulating tumor DNA (ctDNA) has potential as a sensitive and reliable surrogate for tumor tissue-based routine diagnostic testing. However, variations in pre(analytical) procedures affect the ... ...

    Abstract Background: Identification of tumor-derived variants in circulating tumor DNA (ctDNA) has potential as a sensitive and reliable surrogate for tumor tissue-based routine diagnostic testing. However, variations in pre(analytical) procedures affect the efficiency of ctDNA recovery. Here, an external quality assessment (EQA) was performed to determine the performance of ctDNA mutation detection work flows that are used in current diagnostic settings across laboratories within the Dutch COIN consortium (ctDNA on the road to implementation in The Netherlands).
    Methods: Aliquots of 3 high-volume diagnostic leukapheresis (DLA) plasma samples and 3 artificial reference plasma samples with predetermined mutations were distributed among 16 Dutch laboratories. Participating laboratories were requested to perform ctDNA analysis for BRAF exon 15, EGFR exon 18-21, and KRAS exon 2-3 using their regular circulating cell-free DNA (ccfDNA) analysis work flow. Laboratories were assessed based on adherence to the study protocol, overall detection rate, and overall genotyping performance.
    Results: A broad range of preanalytical conditions (e.g., plasma volume, elution volume, and extraction methods) and analytical methodologies (e.g., droplet digital PCR [ddPCR], small-panel PCR assays, and next-generation sequencing [NGS]) were used. Six laboratories (38%) had a performance score of >0.90; all other laboratories scored between 0.26 and 0.80. Although 13 laboratories (81%) reached a 100% overall detection rate, the therapeutically relevant EGFR p.(S752_I759del) (69%), EGFR p.(N771_H773dup) (50%), and KRAS p.(G12C) (48%) mutations were frequently not genotyped accurately.
    Conclusions: Divergent (pre)analytical protocols could lead to discrepant clinical outcomes when using the same plasma samples. Standardization of (pre)analytical work flows can facilitate the implementation of reproducible liquid biopsy testing in the clinical routine.
    Language English
    Publishing date 2024-03-14
    Publishing country England
    Document type Journal Article
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1093/clinchem/hvae014
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  6. Article ; Online: B-cell lymphoblastic lymphoma with cutaneous involvement and a KMT2A gene rearrangement.

    Kemps, Paul G / Cleven, Arjen H G / van Wezel, Tom / van Eijk, Ronald / Bot, Freek J / Veelken, Hendrik / van Balen, Peter / Kerkhoffs, Jean-Louis H

    American journal of hematology

    2020  Volume 95, Issue 11, Page(s) 1427–1429

    MeSH term(s) Adult ; Gene Rearrangement ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/metabolism ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology ; Skin Neoplasms/drug therapy ; Skin Neoplasms/genetics ; Skin Neoplasms/metabolism ; Skin Neoplasms/pathology
    Chemical Substances KMT2A protein, human ; Myeloid-Lymphoid Leukemia Protein (149025-06-9) ; Histone-Lysine N-Methyltransferase (EC 2.1.1.43)
    Language English
    Publishing date 2020-04-15
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.25801
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    Zs.A 1251: Show issues Location:
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  7. Article ; Online: Synchronous diffuse large B-cell lymphoma and mantle cell lymphoma: support for low-threshold biopsies and genetic testing.

    de Groot, Fleur A / de Haan, Lorraine M / de Groen, Ruben A L / Heijmen, Linda / van Wezel, Tom / van Eijk, Ronald / Bohmer, Lara / Bot, Freek / Ten Berge, Rosita L / Diepstra, Arjan / Veelken, Hendrik / Cleven, Arjen H G / Jansen, Patty M / Vermaat, Joost S P

    Leukemia & lymphoma

    2021  Volume 63, Issue 5, Page(s) 1251–1255

    MeSH term(s) Adult ; Biopsy ; Genetic Testing ; Humans ; Lymphoma, Follicular/pathology ; Lymphoma, Large B-Cell, Diffuse/diagnosis ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/pathology ; Lymphoma, Mantle-Cell/diagnosis ; Lymphoma, Mantle-Cell/genetics ; Lymphoma, Mantle-Cell/pathology
    Language English
    Publishing date 2021-12-21
    Publishing country United States
    Document type Letter
    ZDB-ID 1042374-6
    ISSN 1029-2403 ; 1042-8194
    ISSN (online) 1029-2403
    ISSN 1042-8194
    DOI 10.1080/10428194.2021.2015589
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  8. Article ; Online: Assessment of a fully automated high-throughput DNA extraction method from formalin-fixed, paraffin-embedded tissue for KRAS, and BRAF somatic mutation analysis.

    van Eijk, Ronald / Stevens, Lisa / Morreau, Hans / van Wezel, Tom

    Experimental and molecular pathology

    2013  Volume 94, Issue 1, Page(s) 121–125

    Abstract: Preoperative biopsies or imbedded cytological cells will become more and more a primary source of tissue for molecular diagnostic analyses as a result of novel neo-adjuvant treatment regimens for several cancer types. Furthermore there is a growing need ... ...

    Abstract Preoperative biopsies or imbedded cytological cells will become more and more a primary source of tissue for molecular diagnostic analyses as a result of novel neo-adjuvant treatment regimens for several cancer types. Furthermore there is a growing need to examine metastatic cancer tissue. Hence, nucleic acids need to be reliably isolated and analyzed from small amounts of formalin-fixed and paraffin-embedded (FFPE) tissue. The limited numbers of (tumor) cells in these samples make high quality and sensitive DNA isolation challenging. Also demands for faster turnaround times are growing. Therefore, we evaluated a fully automated DNA/RNA isolation system and compared this with a manual, classical routine molecular pathology method. We compared the quality of the isolates from both tissue cores and micro-dissection for detection of hotspot mutations in KRAS, BRAF applying hydrolysis probe assays. In addition we determined whether the automated method decreases the hands-on-time and turnaround times in routine molecular pathology workflow. In conclusion, the automated method delivers high quality DNA from both small FFPE tissue cores and micro-dissected tissue material. In comparison to classical methods, less than 50% of starting tissue was sufficient as input for micro-dissection. Turnaround times decreased significantly and 50% less hands-on time was needed.
    MeSH term(s) Biomarkers, Tumor/genetics ; DNA/isolation & purification ; DNA Mutational Analysis/methods ; Formaldehyde ; Genes, ras ; High-Throughput Screening Assays/methods ; Humans ; Mutation ; Neoplasms/diagnosis ; Neoplasms/genetics ; Paraffin Embedding ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras) ; RNA/isolation & purification ; Tissue Fixation ; ras Proteins/genetics
    Chemical Substances Biomarkers, Tumor ; KRAS protein, human ; Proto-Oncogene Proteins ; Formaldehyde (1HG84L3525) ; RNA (63231-63-0) ; DNA (9007-49-2) ; BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; ras Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2013-02
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 207655-x
    ISSN 1096-0945 ; 0014-4800
    ISSN (online) 1096-0945
    ISSN 0014-4800
    DOI 10.1016/j.yexmp.2012.06.004
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    Zs.A 183: Show issues Location:
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  9. Article ; Online: Cell-of-origin classification using the Hans and Lymph2Cx algorithms in primary cutaneous large B-cell lymphomas.

    Schrader, Anne M R / de Groen, Ruben A L / Willemze, Rein / Jansen, Patty M / Quint, Koen D / van Wezel, Tom / van Eijk, Ronald / Ruano, Dina / Tensen, Cornelis P / Hauben, Esther / Woei-A-Jin, F J S H / Busschots, Anne M / van den Berg, Anke / Diepstra, Arjan / Vermeer, Maarten H / Vermaat, Joost S P

    Virchows Archiv : an international journal of pathology

    2022  Volume 480, Issue 3, Page(s) 667–675

    Abstract: Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) and primary cutaneous follicle center lymphoma with a diffuse population of large cells (PCFCL-LC) are both primary cutaneous B-cell lymphomas with large-cell morphology (CLBCL) but ... ...

    Abstract Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) and primary cutaneous follicle center lymphoma with a diffuse population of large cells (PCFCL-LC) are both primary cutaneous B-cell lymphomas with large-cell morphology (CLBCL) but with different clinical characteristics and behavior. In systemic diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS), gene-expression profiling (GEP) revealed two molecular subgroups based on their cell-of-origin (COO) with prognostic significance: the germinal center B-cell-like (GCB) subtype and the activated B-cell-like (ABC) subtype. This study investigated whether COO classification is a useful tool for classification of CLBCL. For this retrospective study, 51 patients with PCDLBCL-LT and 15 patients with PCFCL-LC were analyzed for their COO according to the immunohistochemistry-based Hans algorithm and the NanoString GEP-based Lymph2Cx algorithm. In PCFCL-LC, all cases (100%) classified as GCB by both Hans and Lymph2Cx. In contrast, COO classification in PCDLBCL-LT was heterogeneous. Using Hans, 75% of the PCDLBCL-LT patients classified as non-GCB and 25% as GCB, while Lymph2Cx classified only 18% as ABC, 43% as unclassified/intermediate, and 39% as GCB. These COO subgroups did not differ in the expression of BCL2 and IgM, mutations in MYD88 and/or CD79B, loss of CDKN2A, or survival. In conclusion, PCFCL-LC uniformly classified as GCB, while PCDLBCL-LT classified along the COO spectrum of DLBCL-NOS using the Hans and Lymph2Cx algorithms. In contrast to DLBCL-NOS, the clinical relevance of COO classification in CLBCL using these algorithms has limitations and cannot be used as an alternative for the current multiparameter approach in differentiation of PCDLBCL-LT and PCFCL-LC.
    MeSH term(s) Algorithms ; Germinal Center/pathology ; Humans ; Immunohistochemistry ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/pathology ; Retrospective Studies
    Language English
    Publishing date 2022-01-14
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1184867-4
    ISSN 1432-2307 ; 0945-6317
    ISSN (online) 1432-2307
    ISSN 0945-6317
    DOI 10.1007/s00428-021-03265-5
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  10. Article: Genetic Stability of Driver Alterations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type and Their Relapses: A Rationale for the Use of Molecular-Based Methods for More Effective Disease Monitoring.

    Schrader, Anne M R / de Groen, Ruben A L / Willemze, Rein / Jansen, Patty M / Quint, Koen D / Cleven, Arjen H G / van Wezel, Tom / van Eijk, Ronald / Ruano, Dina / Veelken, J H Hendrik / Tensen, Cornelis P / Neelis, Karen J / Daniels, Laurien A / Hauben, Esther / Woei-A-Jin, F J S H Sherida / Busschots, A M Annemie / Vermeer, Maarten H / Vermaat, Joost S P

    Cancers

    2022  Volume 14, Issue 20

    Abstract: Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) is a rare, aggressive cutaneous lymphoma with a 5-year disease-specific survival of only ~55%. Despite high response rates to initial immune-polychemotherapy, most patients experience ...

    Abstract Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) is a rare, aggressive cutaneous lymphoma with a 5-year disease-specific survival of only ~55%. Despite high response rates to initial immune-polychemotherapy, most patients experience a disease relapse. The genetic evolution of primary and relapsed/refractory disease has only scarcely been studied in PCDLBCL-LT patients. Therefore, in this retrospective cohort study, 73 primary/pre-treatment and relapsed/refractory biopsies of 57 patients with PCDLBCL-LT were molecularly characterized with triple FISH and targeted next-generation sequencing for 52 B-cell-lymphoma-relevant genes, including paired analysis in 16 patients. In this cohort, 95% of patients harboured at least one of the three main driver alterations (mutations in
    Language English
    Publishing date 2022-10-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers14205152
    Database MEDical Literature Analysis and Retrieval System OnLINE

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