MAP2K1-driven mixed Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease and Erdheim-Chester disease, clonally related to acute myeloid leukemia

J Cutan Pathol. 2021 May;48(5):637-643. doi: 10.1111/cup.13918. Epub 2020 Nov 24.

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.

Keywords: Erdheim-Chester disease; Langerhans cell histiocytosis; Rosai-Dorfman-Destombes disease; acute myeloid leukemia; clonal relation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Biopsy
  • Diagnosis, Differential
  • Erdheim-Chester Disease / complications
  • Erdheim-Chester Disease / genetics*
  • Erdheim-Chester Disease / pathology
  • Fatal Outcome
  • Female
  • Histiocytes / pathology
  • Histiocytosis, Langerhans-Cell / complications
  • Histiocytosis, Langerhans-Cell / drug therapy
  • Histiocytosis, Langerhans-Cell / genetics*
  • Histiocytosis, Langerhans-Cell / pathology
  • Histiocytosis, Sinus / complications
  • Histiocytosis, Sinus / genetics*
  • Histiocytosis, Sinus / pathology
  • Humans
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / etiology
  • Leukemia, Myeloid, Acute / pathology*
  • MAP Kinase Kinase 1 / genetics*
  • Male
  • Middle Aged
  • Neoplasms, Second Primary / pathology
  • Skin / pathology

Substances

  • MAP Kinase Kinase 1
  • MAP2K1 protein, human