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  • Title: MAP2K1-driven mixed Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease and Erdheim-Chester disease, clonally related to acute myeloid leukemia.
    Author: Bonometti A, Ferrario G, Parafioriti A, Giardino D, Simonetti F, Ginori A, Passoni E, Berti E, for AIRI, Associazione Italiana Ricerca Istiocitosi ONLUS.
    Journal: J Cutan Pathol; 2021 May; 48(5):637-643. PubMed ID: 33188581.
    Abstract:
    Mixed histiocytoses are a rare and recently recognized subset of histiocytic disorders that may involve the skin, characterized by the synchronous or metachronous development of lesions with Langerhans and/or non-Langerhans cell histiocytosis histopathological features. Around 10% of patients diagnosed with histiocytosis may develop a hematological malignancy, often with dramatic prognostic consequences. We hereby describe the exceptional case of a patient developing a MAP2K1-driven mixed histiocytosis with Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease, and Erdheim-Chester disease features and cutaneous involvement, progressing to a fatal and clonally-related acute myeloid leukemia. We reviewed the literature on similar cases and discussed the histopathological difficulties in their diagnosis and their clinical-pathological features.
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