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Central nervous system involvement in Erdheim-Chester disease: An observational cohort study
Fleur Cohen Aubart1, Ahmed Idbaih1, Damien Galanaud1
1From Service de Médecine Interne 2, Centre National de Référence Maladies Systémiques Rares et Histiocytoses (F.C.A., Z.A., J.H.), Service de Neuroradiologie (D.G., B.L.-Y.), Service d'Anatomopathologie (F.C.), Service de Médecine Nucléaire (P.M.), Service de Neuropathologie (D.S.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université; Service de Neurologie 2-Mazarin (A.I., K.H.-Z.), Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle Épinière, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Sorbonne Université, Paris; Département de Pathologie (J.-F.E.), EA4340, Université Versailles-Saint Quentin, Assistance Publique Hôpitaux de Paris, Hôpital Ambroise Paré, Boulogne; and Service d'Hématologie Pédiatrique, Centre de Référence National Histiocytoses (J.D.), Hôpital Trousseau, Sorbonne Université, Paris, France.
Objective:
CNS involvement in Erdheim-Chester disease (ECD) leads to substantial morbidity and mortality. To assess CNS manifestations in a French cohort of 253 patients with ECD, we determined clinical characteristics and outcomes, including those under targeted therapies.
Methods:
This was a retrospective longitudinal study. CNS manifestations were determined by clinical examination and brain or spine MRI. Targeted therapy efficacy was assessed using global assessment from a physician and a radiologist. The study was approved by the ethics committee Comité de Protection des Personnes Ile de France III.
Results:
Ninety-seven of 253 patients (38%) with ECD had CNS involvement. CNS involvement was significantly associated with a younger age at diagnosis (mean 55.5 years) and at symptom onset (mean 50.5 years), as well as with the presence of the BRAF V600E mutation (in 77% of cases), xanthelasma (34%), and diabetes insipidus (36%). Median survival among patients with CNS involvement was significantly lower than that of patients with ECD without CNS involvement (124 months vs 146 months, p = 0.03). Seventy-four CNS MRIs were centrally reviewed, which showed 3 patterns: tumoral in 66%, pseudo-degenerative in 50%, and vascular in 18%. Targeted therapy (BRAF or MEK inhibitors) was associated with improved symptoms in 43% of patients and MRI improvement in 45%.
Conclusions:
CNS manifestations are typically associated with poor prognosis in patients with ECD. Three distinct patterns can be recognized: tumoral, pseudodegenerative, and vascular.
Classification Of Evidence:
This study provides Class III evidence that targeted therapy leads to clinical or imaging improvement in almost 50% of patients.
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