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  1. Article ; Online: All activated signaling pathways lead to anaplastic large cell lymphoma (ALCL).

    Bonzheim, Irina / Quintanilla-Martinez, Leticia

    Leukemia & lymphoma

    2021  Volume 62, Issue 7, Page(s) 1541–1543

    MeSH term(s) Anaplastic Lymphoma Kinase ; Humans ; Lymphoma, Large-Cell, Anaplastic ; Signal Transduction
    Chemical Substances Anaplastic Lymphoma Kinase (EC 2.7.10.1)
    Language English
    Publishing date 2021-05-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1042374-6
    ISSN 1029-2403 ; 1042-8194
    ISSN (online) 1029-2403
    ISSN 1042-8194
    DOI 10.1080/10428194.2021.1924373
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    Zs.A 2997: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  2. Article ; Online: Cuprizone feeding induces swollen astrocyte endfeet.

    Fallier-Becker, Petra / Bonzheim, Irina / Pfeiffer, Friederike

    Pflugers Archiv : European journal of physiology

    2022  Volume 474, Issue 12, Page(s) 1275–1283

    Abstract: The cuprizone model is a widely used model to study the pathogenesis of multiple sclerosis (MS). Due to the selective loss of mature oligodendrocytes and myelin, it is mainly being used to study demyelination and the mechanisms of remyelination, as well ... ...

    Abstract The cuprizone model is a widely used model to study the pathogenesis of multiple sclerosis (MS). Due to the selective loss of mature oligodendrocytes and myelin, it is mainly being used to study demyelination and the mechanisms of remyelination, as well as the efficiency of compounds or therapeutics aiming at remyelination. Although early investigations using high dosages of cuprizone reported the occurrence of hydrocephalus, it has long been assumed that cuprizone feeding at lower dosages does not induce changes at the blood-brain barrier (BBB). Here, by analyzing BBB ultrastructure with high-resolution electron microscopy, we report changes at astrocytic endfeet surrounding vessels in the brain parenchyma. Particularly, edema formation around blood vessels and swollen astrocytic endfeet already occurred after feeding low dosages of cuprizone. These findings indicate changes in BBB function that will have an impact on the milieu of the central nervous system (CNS) in the cuprizone model and need to be considered when studying the mechanisms of de- and remyelination.
    MeSH term(s) Animals ; Mice ; Cuprizone/toxicity ; Astrocytes/pathology ; Demyelinating Diseases/chemically induced ; Demyelinating Diseases/pathology ; Mice, Inbred C57BL ; Disease Models, Animal
    Chemical Substances Cuprizone (5N16U7E0AO)
    Language English
    Publishing date 2022-10-15
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 6380-0
    ISSN 1432-2013 ; 0031-6768
    ISSN (online) 1432-2013
    ISSN 0031-6768
    DOI 10.1007/s00424-022-02759-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Fisetin overcomes non-targetability of mutated KRAS induced YB-1 signaling in colorectal cancer cells and improves radiosensitivity by blocking repair of radiation-induced DNA double-strand breaks.

    Khozooei, Shayan / Veerappan, Soundaram / Bonzheim, Irina / Singer, Stephan / Gani, Cihan / Toulany, Mahmoud

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology

    2023  Volume 188, Page(s) 109867

    Abstract: Background and purpose: KRAS is frequently mutated, and the Y-box binding protein 1 (YB-1) is overexpressed in colorectal cancer (CRC). Mutant KRAS (KRAS: Materials and methods: KRAS activity and KRAS mutation were analyzed by Ras-GTP assay and NGS. ... ...

    Abstract Background and purpose: KRAS is frequently mutated, and the Y-box binding protein 1 (YB-1) is overexpressed in colorectal cancer (CRC). Mutant KRAS (KRAS
    Materials and methods: KRAS activity and KRAS mutation were analyzed by Ras-GTP assay and NGS. Effect of dual targeting of RSK and AKT (DT), the effect of fisetin as well as targeting PAK by FRAX486 and EGFR by erlotinib on YB-1 activity was tested by Western blotting after irradiation in vitro and ex vivo. Additionally, the effect of DT and FRAX486 on DSB repair pathways was tested in cells expressing reporter constructs for the DSB repair pathways by flow cytometry analysis. Residual DSBs and clonogenicity were examined by γH2AX- and clonogenic assays, respectively.
    Results: Erlotinib neither blocked DSB repair nor inhibited YB-1 phosphorylation under KRAS mutation condition in vitro and ex vivo. DT and FRAX486 effectively inhibited YB-1 phosphorylation independent of KRAS mutation status and diminished homologous recombination (HR) and alternative non-homologous end joining (NHEJ) repair. DT and FRAX486 inhibited DSB repair in CaCo2 but not in isogenic KRAS
    Conclusion: Combination of fisetin with radiotherapy may improve CRC radiation response, regardless of KRAS
    Language English
    Publishing date 2023-08-25
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 605646-5
    ISSN 1879-0887 ; 0167-8140
    ISSN (online) 1879-0887
    ISSN 0167-8140
    DOI 10.1016/j.radonc.2023.109867
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    Zs.A 1926: Show issues Location:
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  4. Article ; Online: [No title information]

    Forschner, Andrea / Forchhammer, Stephan / Bonzheim, Irina

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 12, Page(s) 1387–1393

    Abstract: Fusionen der neurotrophen Tyrosin-Rezeptor-Kinase (NTRK) sind bekannte Treiber der Onkogenese und treten, wenn auch sehr selten, ebenfalls beim Melanom auf. Eine besonders hohe Inzidenz von NTRK-Genfusionen wird beim infantilen Fibrosarkom (> 90 %) oder ... ...

    Title translation NTRK-Genfusionen beim Melanom: Diagnostik, Prävalenz und mögliche Therapierelevanz.
    Abstract Fusionen der neurotrophen Tyrosin-Rezeptor-Kinase (NTRK) sind bekannte Treiber der Onkogenese und treten, wenn auch sehr selten, ebenfalls beim Melanom auf. Eine besonders hohe Inzidenz von NTRK-Genfusionen wird beim infantilen Fibrosarkom (> 90 %) oder der sekretorischen Form des Mammakarzinoms (> 90 %) berichtet. Erst kürzlich wurde Larotrectinib, ein Tropomyosin-Rezeptor-Kinase (TRK)-Inhibitor, zugelassen, und wir fragten uns, ob TRK-Inhibitoren auch für Melanompatienten relevant sein könnten. Aus diesem Grund haben wir die Literatur gesichtet und sind zu relevanten Ergebnissen gekommen. Beim spitzoiden Melanom sind NTRK-Fusionen mit einer Prävalenz von 21-29 % relativ häufig, verglichen mit < 1 % beim kutanen oder mukosalen und 2,5 % beim akralen Melanom. Es scheint so zu sein, dass sich Fusionsproteine und andere onkogene Treiber wie BRAF oder NRAS gegenseitig ausschließen. Ein weiterer Anhaltspunkt für eine erhöhte Wahrscheinlichkeit, NTRK-positive Tumoren zu detektieren, könnte eine geringe Tumormutationslast sein. Da für Patienten mit NTRK-Fusionen bereits TRK-Inhibitoren zur Verfügung stehen, wird die Herausforderung darin bestehen, das Screening auf NTRK-Genfusionen in die klinische Praxis umzusetzen. Ein möglicher Ansatz könnte darin bestehen, BRAF-, NRAS- und KIT-Wildtyp-Melanom-Patienten mittels Next-Generation Sequencing zu screenen, sobald sie eine systemische Therapie benötigen oder aber spätestens dann, wenn sie kein Therapieansprechen auf Checkpoint-Inhibitoren zeigen.
    Language German
    Publishing date 2020-12-29
    Publishing country Germany
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14160_g
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    Zs.A 6148: Show issues Location:
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  5. Article ; Online: NTRK gene fusions in melanoma: detection, prevalence and potential therapeutic implications.

    Forschner, Andrea / Forchhammer, Stephan / Bonzheim, Irina

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 12, Page(s) 1387–1392

    Abstract: Fusions involving neurotrophic tyrosine receptor kinase (NTRK) are known drivers of oncogenesis and also occur in melanoma, although very rarely. A particularly high incidence of NTRK gene fusions is reported in infantile fibrosarcoma (> 90 %) or the ... ...

    Abstract Fusions involving neurotrophic tyrosine receptor kinase (NTRK) are known drivers of oncogenesis and also occur in melanoma, although very rarely. A particularly high incidence of NTRK gene fusions is reported in infantile fibrosarcoma (> 90 %) or the secretory type of breast cancer (> 90 %). Recently, larotrectinib (a tropomyosin receptor kinase [TRK] inhibitor) was approved, and we wondered whether TRK inhibitors might also be helpful for melanoma patients. We therefore screened the literature and obtained relevant results. NTRK fusions are relatively common in spitzoid melanoma, with a prevalence of 21-29 % compared to < 1 % in cutaneous or mucosal melanoma and 2.5 % in acral melanoma. It appears that fusion proteins are mutually exclusive for most common oncogenic drivers such as BRAF or NRAS. A further indicator of an increased probability of detecting NTRK-positive tumors could be a low mutation load. Since TRK inhibitors are already available for patients with NTRK fusions, the challenge will be to implement screening for NTRK gene fusions in clinical practice. A possible approach could be to screen BRAF, NRAS and KIT wild-type melanoma patients with next-generation sequencing as soon as they need systemic treatment or at the latest when they have no tumor control on checkpoint inhibitors.
    MeSH term(s) Gene Fusion ; Humans ; Melanoma/drug therapy ; Melanoma/epidemiology ; Melanoma/genetics ; Neoplasms ; Prevalence ; Protein Kinase Inhibitors ; Receptor, trkA/genetics ; Skin Neoplasms/drug therapy ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics
    Chemical Substances Protein Kinase Inhibitors ; Receptor, trkA (EC 2.7.10.1)
    Language English
    Publishing date 2020-07-12
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14160
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Successful treatment of metastatic uveal melanoma with ipilimumab and nivolumab after severe progression under tebentafusp: a case report.

    Reiter, Selina / Schroeder, Christopher / Broche, Julian / Sinnberg, Tobias / Bonzheim, Irina / Süsskind, Daniela / Flatz, Lukas / Forschner, Andrea

    Frontiers in oncology

    2023  Volume 13, Page(s) 1167791

    Abstract: Metastatic uveal melanoma (UM) is a rare form of melanoma differing from cutaneous melanoma by etiology, prognosis, driver mutations, pattern of metastases and poor response rate to immune checkpoint inhibitors (ICI). Recently, a bispecific gp100 peptide- ...

    Abstract Metastatic uveal melanoma (UM) is a rare form of melanoma differing from cutaneous melanoma by etiology, prognosis, driver mutations, pattern of metastases and poor response rate to immune checkpoint inhibitors (ICI). Recently, a bispecific gp100 peptide-HLA-directed CD3 T cell engager, tebentafusp, has been approved for the treatment of HLA-A*02:01 metastatic or unresectable UM. While the treatment regime is complex with weekly administrations and close monitoring, the response rate is limited. Only a few data exist on combined ICI in UM after previous progression on tebentafusp. In this case report, we present a patient with metastatic UM who first suffered extensive progression under treatment with tebentafusp but in the following had an excellent response to combined ICI. We discuss possible interactions that could explain responsiveness to ICI after pretreatment with tebentafusp in advanced UM.
    Language English
    Publishing date 2023-05-03
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2023.1167791
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  7. Article ; Online: Lymphome des Auges und seiner Adnexe : Moderne pathologische Diagnostik und systemische Therapie.

    Fend, Falko / Bonzheim, Irina / Kakkassery, Vinodh / Heindl, Ludwig M / Illerhaus, Gerald

    Die Ophthalmologie

    2022  Volume 119, Issue 7, Page(s) 664–674

    Abstract: Background: Malignant lymphomas of the eye and its adnexal structures account for approximately 5-15% of extranodal lymphomas. According to anatomic and biological criteria, two large groups of lymphomas in and around the eye need to be distinguished: ( ... ...

    Title translation Lymphoma of the eye and its adnexa : Modern pathological diagnostics and systemic treatment.
    Abstract Background: Malignant lymphomas of the eye and its adnexal structures account for approximately 5-15% of extranodal lymphomas. According to anatomic and biological criteria, two large groups of lymphomas in and around the eye need to be distinguished: (1) primary lymphomas of intraocular structures and (2) primary lymphomas of ocular adnexa. Furthermore, there is a large spectrum of secondary manifestations of malignant lymphomas in ocular and periocular structures.
    Objective: This article gives a summary of the classification and molecular pathology of various intraocular and periocular lymphomas as well as oncological systemic treatment with a focus on primary vitreoretinal lymphomas.
    Methods: A selective literature search was carried out in PubMed on the topic of intraocular and periocular lymphomas and own experiences are presented.
    Results: The treatment of primary vitreoretinal lymphomas (PVRL) is an interdisciplinary challenge and despite the apparently localized disease, systemic treatment concepts are necessary to reduce the high risk of secondary involvement of the central nervous system (CNS). Therefore, it is crucial that the substances used can penetrate the CNS, and protocols should be chosen in accordance with the treatment concepts for primary CNS lymphomas. The knowledge on the genetics and biology of ocular lymphomas generated by modern high throughput methods enable not only improved diagnostics using molecular methods but also provide rationales for targeted therapeutic approaches.
    Conclusion: A deep understanding of the biological and molecular principles of intraocular and periocular lymphomas forms a basic prerequisite for precise diagnostics and the use of targeted systemic treatment.
    MeSH term(s) Eye Neoplasms/diagnosis ; Humans ; Lymphoma/diagnosis ; Lymphoma, B-Cell/therapy ; Lymphoma, Non-Hodgkin
    Language German
    Publishing date 2022-05-23
    Publishing country Germany
    Document type Journal Article ; Review
    ISSN 2731-7218
    ISSN (online) 2731-7218
    DOI 10.1007/s00347-022-01650-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Prevalence of IRF4 rearrangement in large B-cell lymphomas of the Waldeyer's ring in adults.

    Streich, Sebastian / Frauenfeld, Leonie / Otto, Franziska / Mankel, Barbara / Bonzheim, Irina / Fend, Falko / Quintanilla-Martinez, Leticia

    Virchows Archiv : an international journal of pathology

    2023  Volume 482, Issue 3, Page(s) 551–560

    Abstract: Diffuse large B-cell lymphoma (DLBCL) is the most common B-cell non-Hodgkin lymphoma (B-NHL) in adults. These lymphomas are classified according to gene expression profiling (GEP) into germinal center B-cell (GCB) and activated B-cell type (ABC). Recent ... ...

    Abstract Diffuse large B-cell lymphoma (DLBCL) is the most common B-cell non-Hodgkin lymphoma (B-NHL) in adults. These lymphomas are classified according to gene expression profiling (GEP) into germinal center B-cell (GCB) and activated B-cell type (ABC). Recent studies have suggested new subtypes of large B-cell lymphoma, based on genetic and molecular alterations, among them is large B-cell lymphoma with IRF4-rearrangement (LBCL-IRF4). We used fluorescence in situ hybridization (FISH), GEP (using the DLBCL COO assay by HTG Molecular Inc), and next generation sequencing (NGS) to comprehensively characterize 30 cases of LBCLs located in Waldeyer's ring in adult patients and to identify LBCL-IRF4. FISH revealed breaks of IRF4 in 2/30 cases (6.7%), BCL2 breaks in 6/30 cases (20.0%), and IGH breaks in 13/29 cases (44.8%). GEP classified 14 cases each as GCB or ABC subtype, and 2 cases remained unclassified; this was concordant with the immunohistochemistry (IHC) in 25/30 cases (83.3%). A subgrouping, based on GEP, was performed: group 1 included 14 GCB cases with the most frequent mutations in BCL2 and EZH2 in 6/14 cases (42.8%). The two cases with IRF4 rearrangement were assigned to this group by GEP and showed IRF4 mutations, supporting the diagnosis of LBCL-IRF4. Group 2 included 14 ABC cases; the most frequent mutations were CD79B and MYD88 identified in 5/14 patients (35.7%). Group 3 included 2 unclassifiable cases in which no molecular patterns were detected. Overall, LBCLs of Waldeyer's ring in adult patients are a heterogeneous group, including LBCL-IRF4, which shares several features with cases in the pediatric population.
    MeSH term(s) Child ; Humans ; B-Lymphocytes/pathology ; In Situ Hybridization, Fluorescence ; Lymphoma, Large B-Cell, Diffuse/pathology ; Prevalence ; Proto-Oncogene Proteins c-bcl-2/genetics
    Chemical Substances Proto-Oncogene Proteins c-bcl-2 ; interferon regulatory factor-4
    Language English
    Publishing date 2023-02-22
    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/s00428-023-03516-7
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  9. Article ; Online: Image-guided metabolomics and transcriptomics reveal tumour heterogeneity in luminal A and B human breast cancer beyond glucose tracer uptake.

    Yang, Qianlu / Deng, Sisi / Preibsch, Heike / Schade, Tim-Colin / Koch, André / Berezhnoy, Georgy / Zizmare, Laimdota / Fischer, Anna / Gückel, Brigitte / Staebler, Annette / Hartkopf, Andreas D / Pichler, Bernd J / la Fougère, Christian / Hahn, Markus / Bonzheim, Irina / Nikolaou, Konstantin / Trautwein, Christoph

    Clinical and translational medicine

    2024  Volume 14, Issue 2, Page(s) e1550

    Abstract: Background: Breast cancer is a metabolically heterogeneous disease, and although the concept of heterogeneous cancer metabolism is known, its precise role in human breast cancer is yet to be fully elucidated.: Methods: We investigated in an ... ...

    Abstract Background: Breast cancer is a metabolically heterogeneous disease, and although the concept of heterogeneous cancer metabolism is known, its precise role in human breast cancer is yet to be fully elucidated.
    Methods: We investigated in an explorative approach a cohort of 42 primary mamma carcinoma patients with positron emission tomography/magnetic resonance imaging (PET/MR) prior to surgery, followed by histopathology and molecular diagnosis. From a subset of patients, which showed high metabolic heterogeneity based on tracer uptake and pathology classification, tumour centre and periphery specimen tissue samples were further investigated by a targeted breast cancer gene expression panel and quantitative metabolomics by nuclear magnetic resonance (NMR) spectroscopy. All data were analysed in a combinatory approach.
    Results: [
    Conclusion: Our analysis indicates variations in metabolism among different breast cancer subtypes and sampling locations which details the heterogeneity of the breast tumours. Correlation analysis of [
    MeSH term(s) Humans ; Female ; Breast Neoplasms/diagnostic imaging ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Fluorodeoxyglucose F18/metabolism ; Gene Expression Profiling ; Acetates ; Serine ; Lipids
    Chemical Substances Fluorodeoxyglucose F18 (0Z5B2CJX4D) ; Acetates ; Serine (452VLY9402) ; Lipids
    Language English
    Publishing date 2024-02-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2697013-2
    ISSN 2001-1326 ; 2001-1326
    ISSN (online) 2001-1326
    ISSN 2001-1326
    DOI 10.1002/ctm2.1550
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  10. Article ; Online: Targeted NGS on sequential bone marrow biopsies aids in the evaluation of cytopenias and monocytosis and documents clonal evolution-a proof of principle study.

    Nann, Dominik / Rau, Achim / Mahmutovic, Lejla / Steinhilber, Julia / Meca, Vanessa / Federmann, Birgit / Vogel, Wichard / Bonzheim, Irina / Quintanilla-Martinez, Leticia / Fend, Falko

    Virchows Archiv : an international journal of pathology

    2023  Volume 483, Issue 6, Page(s) 835–845

    Abstract: Differential diagnosis of clonal versus reactive cytopenia and monocytosis, respectively, frequently presents a diagnostic challenge. With the two recent classifications of myeloid disorders, mutational analysis has gained importance as a diagnostic tool. ...

    Abstract Differential diagnosis of clonal versus reactive cytopenia and monocytosis, respectively, frequently presents a diagnostic challenge. With the two recent classifications of myeloid disorders, mutational analysis has gained importance as a diagnostic tool. However, reports on its utility on trephine bone marrow biopsies (BMB) are sparse. The aim of our proof of principle study was to determine the suitability of targeted sequencing for the longitudinal evaluation of cytopenia and monocytosis and demonstration of clonal evolution on sequential BMB. Seventy-seven EDTA-decalcified BMB of 33 patients with peripheral cytopenia and/or monocytosis, including at least one follow-up biopsy/patient, were included. Initial morphological diagnoses were idiopathic cytopenia of undetermined significance (ICUS, 8 cases), MDS (without blast increase, 7 cases), MDS with increased blasts/excess blasts (MDS-IB/EB) (11 cases), and CMML (7 cases). Thirty-one genes relevant for myeloid disorders were examined using two custom AmpliSeq NGS panels. Mutations were found in the initial BMB of 5/8 cases of ICUS, thus changing the diagnosis to clonal cytopenia of unknown significance (CCUS), 5/7 MDS, 10/11 MDS-IB/EB, and 7/7 CMML. Clonal evolution was observed in 14/33 (42%) cases, mostly associated with disease progression. None of the wild-type patients acquired mutations during follow-up. NGS-based mutation profiling is a robust diagnostic tool for BMB and provides valuable additional information, especially for cases with no/minimal dysplasia, and for better risk stratification of MDS. Tracking variant allele frequency and appearance of mutations over time allows for observing clonal evolution or relapse.
    MeSH term(s) Humans ; Bone Marrow/pathology ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Mutation ; Clonal Evolution/genetics ; Biopsy
    Language English
    Publishing date 2023-08-23
    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/s00428-023-03627-1
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