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Journal of Laboratory Medicine

Official Journal of the German Society of Clinical Chemistry and Laboratory Medicine

Editor-in-Chief: Schuff-Werner, Peter

Ed. by Ahmad-Nejad, Parviz / Bidlingmaier, Martin / Bietenbeck, Andreas / Conrad, Karsten / Findeisen, Peter / Fraunberger, Peter / Ghebremedhin, Beniam / Holdenrieder, Stefan / Kiehntopf, Michael / Klein, Hanns-Georg / Kohse, Klaus P. / Kratzsch, Jürgen / Luppa, Peter B. / Meyer, Alexander von / Nebe, Carl Thomas / Orth, Matthias / Röhrig-Herzog, Gabriele / Sack, Ulrich / Steimer, Werner / Weber, Thomas / Wieland, Eberhard / Winter, Christof / Zettl, Uwe K.


IMPACT FACTOR 2018: 0.389

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2567-9449
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Volume 39, Issue 5

Issues

Diagnostik von myelodysplastischen Syndromen (MDS) und akuten myeloischen Leukämien (AML)

Diagnostic of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML)

Ulrich Germing
  • Corresponding author
  • Klinik für Hämatologie, Onkologie und Klinische Immunologie, Heinrich-Heine-Universität, Moorenstr. 5, 40225 Düsseldorf, Deutschland
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/ Torsten Haferlach
Published Online: 2015-09-19 | DOI: https://doi.org/10.1515/labmed-2015-0063

Zusammenfassung:

Myelodysplastische Syndrome (MDS) sind maligne Stammzellerkrankungen, die meist im höheren Lebensalter anlässlich der Abklärung einer Zytopenie diagnostiziert werden und variable Krankheitsverläufe aufweisen. Die Diagnostik erfolgt mittels Zytologie, Zytogenetik und Histologie unter Berücksichtigung der Ausprägung der Dysplasien, des Blastenanteils in Blut und Knochenmark und zytogenetischer Befunde nach den Vorschlägen der WHO-Klassifikation. Essentiell ist eine möglichst exakte Zytologie, da die Zuordnung zu verschiedenen WHO Typen von hoher prognostischer und damit auch therapeutischer Bedeutung ist. Die akuten myeloischen Leukämien (AML) werden von den MDS anhand einer Blastenzahl von ≥20% im Knochenmark oder im Blut abgegrenzt. Die Diagnostik fusst ebenso wie bei den MDS auf den Säulen der Morphologie, Zytogenetik und Histologie. Zusätzlich haben die Immunphänotypisierung und die Ergebnisse molekulargenetischer Analysen eine grosse Bedeutung. Letztere sind für die Prognose zusammen mit der Zytogenetik von zentraler, therapiesteuernder Relevanz. Zur Bestimmung der minimalen Resterkrankung (MRD) werden die Immunphänotypisierung und molekulare Marker verwendet.

Abstract:

Myelodysplastic syndromes (MDS) are clonal malignant diseases of the hematopoietic stem cell. They are diagnosed mainly in elderly cytopenic patients and are characterized by a heterogeneous course of the disease. The diagnosis is based on blood and marrow cytology, chromosomal examination, and histology of the marrow, taking into account the degree of dysplasia, peripheral and medullary blast count, and cytogenetic findings according to the proposals of the World Health Organisation classification. The assessment of cytologic findings is important because the different types of MDS differ in terms of prognosis and therapeutic considerations. Acute myeloid leukemias are discriminated from MDS according to the blast counts in the bone marrow or peripheral blood (≥20%). Diagnosis is based on morphology and cytogenetics, and histology is also important. In addition, immunophenotyping and molecular investigations are needed. Information derived from cytogenetics and molecular markers play an important role for prognostication. Minimal residual disease can be best investigated using immunophenotyping and measurement of molecular markers.

Reviewed publication

NebeC.T.

Schlüsselwörter:: myelodysplastische Syndrome; akute myeloische Leukämien; Diagnostik; Differentialdiagnostik

Keywords:: acute myeloid leukemia; diagnostic work up; differential diagnosis; myelodysplastic syndromes

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About the article

Korrespondenz: Prof. Dr. med. Ulrich Germing, Klinik für Hämatologie, Onkologie und Klinische Immunologie, Heinrich-Heine-Universität, Moorenstr. 5, 40225 Düsseldorf, Deutschland, Tel.: +49-211-8117720, Fax: +49-211-8118853, E-Mail:


Received: 2015-06-20

Accepted: 2015-07-02

Published Online: 2015-09-19

Published in Print: 2015-10-01


Citation Information: LaboratoriumsMedizin, Volume 39, Issue 5, Pages 291–299, ISSN (Online) 1439-0477, ISSN (Print) 0342-3026, DOI: https://doi.org/10.1515/labmed-2015-0063.

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