Clinical Edge

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Look for This in Patients with ECD, Histiocytosis

Blood; 2017 Aug 24; Papo, Diamond, et al

Among patients with Erdheim-Chester disease (ECD), it is important to evaluate adults with histiocytosis for a concomitant myeloid neoplasm, researchers concluded after conducting a multi-institutional cohort analysis involving 189 individuals.

Investigators looked at patients who had ECD and ECD overlapping with Langerhans cell histiocytosis. Among the results:

  • 10% of patients with ECD had an overlapping myeloid neoplasm, typically a myeloproliferative neoplasm (MPN), myelodysplastic syndrome (MDS), or mixed MDS/MPN overlap syndrome.
  • Molecular analysis often spotted hallmark driver mutations of myeloid neoplasms coexisting with those characteristic of histiocytosis.
  • Patients with histiocytosis with a concomitant myeloid malignancy tended to be substantially older.
  • They also were more likely to present with mixed histiocytosis than those without a myeloid malignancy.
  • Discrete kinase mutations in the histiocytosis and myeloid neoplasm led to discordant and adverse responses to kinase-directed targeted therapies in selected cases.


Papo M, Diamond E, Cohen-Aubart F, et al. High prevalence of myeloid neoplasms in adults with non-Langerhans cell histiocytosis. Blood. 2017;130(8):1007-1013. doi:10.1182/blood-2017-01-761718.