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  1. Book ; Online ; Thesis: Myelodysplastisches Syndrom oder reaktive Zytopenie? Einsatz des targeted Next Generation Sequencing für ein häufiges diagnostisches Dilemma

    Meca, Vanessa Julia [Verfasser] / Fend, Falko [Akademischer Betreuer]

    2022  

    Author's details Vanessa Julia Meca ; Betreuer: Falko Fend
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Tübingen
    Publishing place Tübingen
    Document type Book ; Online ; Thesis
    Database Digital theses on the web

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  2. 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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