Erdheim-Chester disease: a systematic review.
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. It encompasses a spectrum of disorders ranging from asymptomatic bone lesions to multisystemic, life-threatening variants. We reviewed all published reports of histologically-confirmed ECD and explored clinical, radiological, prognostic and therapeutic characteristics in a population of 448 patients, including a unique patient from our Department. To find a clinically relevant signature defining differentiated prognostic profiles, the patients' disease features were compared in relation to their CNS involvement that occurred in 56% of the entire population. Diabetes insipidus, visual disturbances, pyramidal and extra-pyramidal syndromes were the most recurrent neurological signs, whereas concomitant pituitary involvement, retro-orbital masses and axial lesions in the presence of symmetric bilateral osteosclerosis of long bones depicted the typical ECD clinical picture. Patients with CNS infiltration showed a lower occurrence of heart involvement and a higher incidence of bone, skin, retro-peritoneal, lung, aortic and renal infiltration. No difference in the therapeutic algorithm was found after stratification for CNS involvement. A better understanding of the disease pathogenesis, including BRAF deregulation, in keeping with improved prognostic criteria, will provide novel suggestions for the management of ECD.
Department of Biomedical Sciences and Human Oncology, University of Bari "A. Moro", Bari, Italy.
Mauro
M
Cives
Department of Biomedical Sciences and Human Oncology, University of Bari "A. Moro", Bari, Italy.
Valeria
V
Simone
Department of Biomedical Sciences and Human Oncology, University of Bari "A. Moro", Bari, Italy.
Francesca Maria
FM
Rizzo
Department of Neuroradiology, University of Bari "A. Moro", Bari, Italy.
Franca
F
Dicuonzo
Department of Neuroradiology, University of Bari "A. Moro", Bari, Italy.
Marirosa
M
Cristallo Lacalamita
Department of Pathology, University of Bari "A. Moro", Bari, Italy.
Giuseppe
G
Ingravallo
Department of Biomedical Sciences and Human Oncology, University of Bari "A. Moro", Bari, Italy. Electronic address: francesco.silvestris@uniba.it.
Franco
F
Silvestris
Department of Biomedical Sciences and Human Oncology, University of Bari "A. Moro", Bari, Italy.
Franco
F
Dammacco
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D001842:Bone and Bones / Q000473:pathology; D002490:Central Nervous System / Q000473:pathology; D031249:Erdheim-Chester Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics
D000305:Adrenal Cortex Hormones; D048493:Proto-Oncogene Proteins B-raf
BRAF(V600E); CNS involvement; Erdheim–Chester disease; Histiocytosis; Vemurafenib