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Knochenmarkbiopsie

Aufarbeitung und Einsatzmöglichkeiten molekularpathologischer Methoden

Bone marrow biopsy

Processing and use of molecular techniques

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Zusammenfassung

Die rasche methodische Weiterentwicklung immunhistochemischer und molekularpathologischer Verfahren hat auch beträchtliche Auswirkungen auf die Diagnostik an der Knochenmarkstanze. Die Erzielung einer möglichst guten Morphologie bei gleichzeitigem Erhalt der Gewebsantigenität und der Integrität der DNS für molekulare Untersuchungen einerseits und der Wunsch auf zeitnahe Bearbeitung andererseits erfordern einen sorgfältig geplanten Arbeitsablauf für Fixierung, Entkalkung und Einbettung des Trepanats. Dabei stellt die Fixierung in gepuffertem Formalin kombiniert mit der EDTA-Entkalkung einen sehr guten Kompromiss dar, der einen Einsatz aller modernen Techniken ohne Einschränkungen erlaubt. Obwohl sehr viele molekulargenetische Untersuchungen am Aspirat oder an Zellen aus dem peripheren Blut durchgeführt werden, gibt es doch Fragestellungen, bei denen molekularpathologische Analysen wie die Klonalitätsbestimmung bei lymphatischen Knochenmarkinfiltraten oder der Nachweis spezifischer Mutationen am Trepanat notwendig werden. Aufgrund der besonderen Materialgegebenheiten sind insbesondere für die Klonalitätsbestimmung eine zuverlässige Qualitätskontrolle und eine genaue Kenntnis der biologischen und technischen Fehlerquellen notwendig. Diese Übersichtsarbeit gibt einen Überblick über technische Aspekte der Aufarbeitung und diskutiert die Anwendung und Einsatzmöglichkeiten molekularpathologischer Methoden an der Knochenmarkbiopsie.

Abstract

The rapid technological development in diagnostic pathology, especially of immunohistochemical and molecular techniques, also has a significant impact on diagnostic procedures for the evaluation of bone marrow trephine biopsies. The necessity for optimal morphology, combined with preservation of tissue antigens and nucleic acids on one hand and the wish for short turnaround times on the other hand require careful planning of the workflow for fixation, decalcification and embedding of trephines. Although any kind of bone marrow processing has its advantages and disadvantages, formalin fixation followed by EDTA decalcification can be considered a good compromise, which does not restrict the use of molecular techniques. Although the majority of molecular studies in haematological neoplasms are routinely performed on bone marrow aspirates or peripheral blood cells, there are certain indications, in which molecular studies such as clonality determination or detection of specific mutations need to be performed on the trephine biopsy. Especially, the determination of B- or T-cell clonality for the diagnosis of lymphoid malignancies requires stringent quality controls and knowledge of technical pitfalls. In this review, we discuss technical aspects of bone marrow biopsy processing and the application of diagnostic molecular techniques.

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Authors and Affiliations

  1. Institut für Pathologie und Neuropathologie, Universitätsklinikum Tübingen, Liebermeisterstr. 8, 72076, Tübingen, Deutschland

    L. Quintanilla-Martinez , I. Bonzheim & F. Fend

  2. Institut für Klinische Pathologie, Universitätsspital Zürich, Schmelzbergstr. 12, 8091, Zürich, Deutschland

    M. Tinguely

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  1. L. Quintanilla-Martinez
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  2. M. Tinguely
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  3. I. Bonzheim
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  4. F. Fend
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Correspondence to L. Quintanilla-Martinez .

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Quintanilla-Martinez , L., Tinguely, M., Bonzheim, I. et al. Knochenmarkbiopsie. Pathologe 33, 481–489 (2012). https://doi.org/10.1007/s00292-012-1647-z

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  • DOI: https://doi.org/10.1007/s00292-012-1647-z

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