Zusammenfassung
Die Diagnose hämatologischer Erkrankungen stützt sich im klinischen Alltag auf eine aussagekräftige Knochenmarkdiagnostik. Neben den klassischen Verfahren der zytologischen Beurteilung des Knochenmarkaspirats und der histologischen Begutachtung der Knochenmarkbiopsie haben in den letzten Jahren zunehmend auch modernere Verfahren, wie Immunhistochemie, Zytogenetik und molekulare Diagnostik, Einzug in die pathologischen Labors gehalten. Immer weitgehender werden die molekularen Grundlagen hämatologischer Neoplasien identifiziert und bieten nicht nur neue diagnostische, sondern auch zunehmend klinische Anwendungen. Rekurrente genetische Veränderungen sind bei vielen Erkrankungen eng mit der individuellen Prognose assoziiert und finden Eingang in die individuelle Therapieplanung. Das Verständnis deregulierter Pathways ermöglicht in einigen Fällen eine zielgerichtete Therapie. Die Übersichtsarbeit stellt den Stellenwert der Knochenmarkhistologie im klinischen Alltag dar und geht auf neue Möglichkeiten in der Diagnostik hämatologischer Erkrankungen ein.
Abstract
Bone marrow diagnostics is an essential tool in routine hematological clinical practice. Not only conventional cytological and histological approaches but also more modern techniques, such as immunohistochemistry, cytogenetics and molecular diagnostics are used. The molecular basis of more and more hematological disorders is being discovered and makes its way not only into routine diagnostics but also into daily clinical practice. Recurrent genomic aberrations associated with the individual patient prognosis are well characterized and are being applied in differential therapeutic decisions. In addition, understanding deregulated biochemical pathways have led to the development of targeted therapeutic approaches. This review outlines the value of bone marrow diagnostics in hematological diseases with a focus on the currently emerging molecular diagnostic possibilities.
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Seiler, T., Dreyling, M. Knochenmarkhistologie aus klinischer Sicht. Pathologe 33, 490–495 (2012). https://doi.org/10.1007/s00292-012-1648-y
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DOI: https://doi.org/10.1007/s00292-012-1648-y