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Histiozytäre Erkrankung des Kindes- und Jugendalters

Histiocytic diseases in childhood and adolescence

  • Schwerpunkt: Histiozytäre Erkrankungen
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Zusammenfassung

Histiozytosen sind insgesamt seltene Erkrankungen mit variablem klinischem Verlauf sowie variabler Morphologie, welche ihren Häufigkeitsgipfel oft im Kindes- und Jugendalter haben. Hierzu zählen die Langerhans-Zell-Histiozytosen und die sogenannten non-Langerhans-Zell-Histiozytosen, wie das juvenile Xanthogranulom, die Erdheim-Chester-Erkrankung sowie die Rosai-Dorfman-Erkrankung. Die häufigsten im Kindesalter vorkommenden Histiozytosen sind die Langerhans-Zell-Histiozytose und das juvenile Xanthogranulom. Demgegenüber sind die häufiger im Erwachsenenalter vorkommenden Histiozytosen wie die Erdheim-Chester- und die Rosai-Dorfman-Erkankung im Kindes- und Jugendalter selten. Zusätzlich können in seltenen Fällen Precursorzellneoplasien klonale Histiozytoseherde aufweisen. Molekulargenetisch finden sich in einem Teil der Histiozytosen BRAFv600E-Mutationen. In Langerhans-Zell-Histiozytosen finden sich diese in 50–55 % der untersuchten Fälle, bei der Erdheim-Chester-Erkrankung in bis 100 % der Fälle. In den übrigen Histiozytosen (insbesondere dem juvenilen Xanthogranulom sowie der Rosai-Dorfman-Erkrankung) konnten bisher keine BRAF-Mutationen nachgewiesen werden. Eine prognostische Relevanz der BRAF-Mutationen ließ sich hier bisher nicht zeigen, jedoch kann in einzelnen Fällen eine BRAF-Mutationsanalyse Hilfestellung bei der differenzialdiagnostischen Überlegung bieten sowie ggf. die Option eines Therapieansatzes mit BRAF-Inhibitoren eröffnen.

Abstract

Histiocytic diseases are generally rare with a variable clinical course and variable morphology which often have a peak frequency of occurrence in childhood and adolescence. Histiocytoses are subdivided into Langerhans cell histiocytosis and the so-called non-Langerhans cell histiocytosis, such as juvenile xanthogranuloma, Erdheim-Chester disease and Rosai-Dorfman disease. The most common forms of histiocytosis in childhood are Langerhans cell histiocytosis and juvenile xanthogranuloma. In contrast, forms of histiocytosis which occur more frequently in adulthood, such as Erdheim-Chester disease and Rosai-Dorfman disease are rare in childhood. Some forms of histiocytosis harbor BRAFv600E mutations. In Langerhans cell histiocytosis they have been found in 50–55 % of the cases examined and in Erdheim-Chester disease in up to 100 % of cases. In the remaining forms of histiocytosis (especially juvenile xanthogranuloma and Rosai-Dorfman disease) BRAF mutations could not be detected. A prognostic relevance could not be shown so far; however, in individual cases a mutation analysis of BRAF could provide help in the differential diagnostic considerations or the option of a therapy approach with BRAF inhibitors.

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Authors and Affiliations

  1. Kindertumorregister der GPOH, Sektion Kinderpathologie, Universität Kiel, Michaelisstr.11, 24105, Kiel, Deutschland

    C. Vokuhl &  I. Leuschner

  2. Institut für Pathologie, Sektion für Hämatopathologie und Lymphknotenregister, Universitätsklinikum SH, Kiel, Deutschland

    I. Oschlies & W. Klapper

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  1. C. Vokuhl
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Vokuhl, C., Oschlies, I., Klapper, W. et al. Histiozytäre Erkrankung des Kindes- und Jugendalters. Pathologe 36, 443–450 (2015). https://doi.org/10.1007/s00292-015-0043-x

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