Cladribine treatment for Erdheim–Chester disease involving the central nervous system and concomitant polycythemia vera: A case report

Abstract

Erdheim–Chester disease (ECD), a rare form of non-Langerhans cell histiocytosis, is characterized by the infiltration of foamy CD68 + and CD1a - histiocytes into multiple organ systems. Central nervous system (CNS) involvement has recently been reported to be a poor prognostic factor when treating ECD with interferon alpha. We report the case of a 66-year-old Japanese patient with ECD involving the CNS who harbored the BRAF V600E mutation and also concomitantly developed polycythemia vera with the JAK2 V617F mutation. We confirmed 2-chlorodeoxyadenosine (cladribine) therapy to be effective for the patient in this case.

Erdheim-Chester Disease Involving the Central Nervous System with Latent Toxoplasmosis

“…Immunohistochemical staining is an important method used to distinguish ECD from LCH. On immunohistochemical staining, histiocytes in ECD are CD68 + , CD163 + , and CD1a - ( 1 - 3 ), whereas histiocytes in LCH are CD68 + , CD163 + , and CD1a + ( 2 , 3 ). The somatic mutation in the BRAF V600E gene, which has been detected in multiple malignant neoplasms including melanoma, colorectal carcinoma, papillary thyroid carcinoma, and hairy cell leukemia, has recently also been identified in more than 50% of patients with LCH and ECD, suggesting that both diseases are malignant neoplasms sharing common progenitor cells ( 1 - 3 , 6 ).…”

“…Erdheim-Chester disease (ECD) is a rare form of non-LCH that was first described by Jakob Erdheim and William Chester in 1930 (2). ECD is characterized by the infiltration of CD68-positive, CD1a-negative foamy histiocytes into multiple organs (1)(2)(3). Since this disease is very rare and has only been reported in around 500-550 cases worldwide to date, diagnosis of ECD is often difficult and can be delayed (2).…”

“…Histiocytoses are generally classified as Langerhans cell histiocytosis (LCH) or non-LCH ( 1 ). Erdheim-Chester disease (ECD) is a rare form of non-LCH that was first described by Jakob Erdheim and William Chester in 1930 ( 2 ).…”

Histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Comparison of recent WHO classification published 2017 and classification of Histiocyte Society published 2016

“…V některých případech byla popsána účinná léčbě kladribinem (20,21), která má potenciál navodil dlouhodobější kompletní remisi.…”

Therapy of 3 patients with Erdhiem-Chester disease with cladribin or cladribin in combination with cyclophosphamide. Case report and review of the therapy

“…Účinnost kladribinu u ECD byla potvrzena vícero publikacemi(22)(23)(24)(25)(26)(27)(28)(29), a proto účinek kladribinu u ECD lze považovat za dostatečně ověřený.Největší popsaný soubor obsahuje 21 pacientů s ECD, kteří byli léčeni kladribinem. U 9 pacientů byl použit jako lék první linie a u 12 pacientů byl použit až jako lék další linie.…”