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Erdheim-Chester- und Rosai-Dorfman-Erkrankung

Klinisch-radiologisch-pathologische Diagnostik von Non-Langerhans-Zell-Histiozytosen des Erwachsenenalters

Erdheim-Chester disease and Rosai-Dorfman disease

Pathological, radiological and clinical features of adult non-Langerhans cell histiocytosis

  • Schwerpunkt: Histiozytäre Erkrankungen
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Zusammenfassung

Non-Langerhans-Zell-Histiozytosen (N-LCH) des Erwachsenenalters sind seltene Erkrankungen mit unterschiedlicher Pathogenese, Morphologie und klinischer Präsentation. In dieser Übersicht werden 2 bei Erwachsenen auftretende, meist extrakutan manifestierte Krankheitsbilder beschrieben: Die heute als klonale Erkrankung bestätigte Erdheim-Chester-Erkrankung (ECE) und die Rosai-Dorfman-Erkrankung (RDE) als reaktive histiozytäre Proliferation. Die ECE ist eine sehr seltene nonhereditäre lipidspeichernde histiozytäre Erkrankung mit zumeist ossärer Manifestation. Weitere Organbeteiligungen betreffen das ZNS, das kardiovaskuläre System, Retroperitoneum und Nieren sowie seltener Haut und Lungen. Immunhistochemisch werden die Makrophagenmarker CD163, CD68 und Lysozym exprimiert, CD1a und Langerin reagieren in Abgrenzung zur Langerhans-Zell-Histiozytose negativ. Bei der RDE liegt eine wahrscheinlich reaktive Proliferation häufig mehrkerniger, S100-positiver histiozytärer Zellen mit typischer Emperipolese vor, die sich v. a. als ausgeprägte Lymphadenopathie mit massiver Sinushistiozytose entwickelt, aber auch extranodal auftreten kann. Am häufigsten liegen bilaterale, schmerzlose Schwellungen der Halslymphknoten vor. In dieser Übersicht werden die klinischen, radiologischen und histopathologischen Befunde sowie die neuen molekularen Befunde dieser Erkrankung dargestellt.

Abstract

Non-Langerhans cell histiocytoses (N-LCH) of adulthood are rare disorders with heterogeneous pathogenesis, morphology and clinical presentation. In this review two disorders are presented, which predominantly develop in extracutaneous sites in adults. Erdheim-Chester disease is a rare nonhereditary clonal disorder of lipid storing histiocytes most commonly presenting as osseous involvement of the long bones. Other organ manifestations include the central nervous system (CNS), the cardiovascular system, the retroperitoneum and kidneys and less commonly the skin and the lungs. Immunohistochemical staining reveals positivity for the macrophage markers CD163, CD68 and lysozyme but CD1a and langerin are negative, in contrast to Langerhans cell histiocytosis. Rosai-Dorfman disease is considered to be a reactive histiocytic proliferation occurring mainly in lymph nodes. Prominent sinuses filled with commonly multinucleated, S100-positive histiocytes with emperipolesis are a characteristic feature and develops particularly as extensive lymphadenopathy with massive sinus histiocytosis but can also occur extranodally. Painless bilateral cervical lymph node enlargement is the most common clinical presentation. This review summarizes the clinical, radiological and histopathological findings and discusses the recent molecular advances in these rare disorders.

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Authors and Affiliations

  1. Institut für Pathologie und Neuropathologie, Universität Tübingen, Liebermeisterstraße 8, 72076, Tübingen, Deutschland

    H. Bösmüller, D. Nann & F. Fend

  2. Radiologische Universitätsklinik, Abteilung für Diagnostische und Interventionelle Radiologie, Universität Tübingen, Tübingen, Deutschland

    M. Horger

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Correspondence to H. Bösmüller.

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H. Bösmüller, D. Nann, M. Horger und F. Fend geben an, dass kein Interessenkonflikt besteht.

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Bösmüller, H., Nann, D., Horger, M. et al. Erdheim-Chester- und Rosai-Dorfman-Erkrankung. Pathologe 36, 458–466 (2015). https://doi.org/10.1007/s00292-015-0057-4

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