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MAP2K1 ‐ driven mixed Langerhans cell histiocytosis, Rosai‐Dorfman‐Destombes disease and Erdheim‐Chester disease, clonally related to acute myeloid leukemia
Author(s) -
Bonometti Arturo,
Ferrario Giuseppina,
Parafioriti Antonina,
Giardino Demostene,
Simonetti Federico,
Ginori Alessandro,
Passoni Emanuela,
Berti Emilio
Publication year - 2021
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13918
Subject(s) - erdheim–chester disease , histiocytosis , langerhans cell histiocytosis , histiocyte , rosai–dorfman disease , medicine , pathology , malignancy , pathological , disease , myeloid , malignant histiocytosis , immunology
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.