Quentin Moyon1, Samia Boussouar2, Philippe Maksud3, Jean-François Emile4, Frédéric Charlotte5, Nathalie Aladjidi6, Grégoire Prévot7, Jean Donadieu8, Zahir Amoura1, Philippe Grenier2, Julien Haroche1, Fleur Cohen Aubart9. 1. Service de Médecine Interne 2, Centre National de Référence Maladies Systémiques Rares et Histiocytoses, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France. 2. Service de Radiologie, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France. 3. Service de Médecine Nucléaire, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France. 4. EA4340, Université Versailles-Saint Quentin, Assistance Publique Hôpitaux de Paris, Hôpital Ambroise Paré, Département de Pathologie, Boulogne, France. 5. Service d'Anatomopathologie, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France. 6. Service d'hématologie pédiatrique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France. 7. Service de pneumologie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France. 8. Service d'Hématologie Pédiatrique, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Paris, France. 9. Service de Médecine Interne 2, Centre National de Référence Maladies Systémiques Rares et Histiocytoses, Sorbonne Université, Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France. Electronic address: fleur.cohen@aphp.fr.
Abstract
BACKGROUND: Destombes-Rosai-Dorfman disease (RDD) is a rare multisystemic histiocytosis. Pulmonary involvement during RDD has been poorly described. The goal of this study was to examine the clinical presentations, radiological features, and outcomes of 15 patients with RDD and lung involvement. METHODS: The cases of RDD with lung involvement were extracted from the French National Histiocytosis registry. Efficacy of the MEK inhibitor cobimetinib in treating lung disease was evaluated with an 18fluorodeoxyglucose PET scanner and chest CT scans. RESULTS: Fifteen patients (six women; median age, 40 years at RDD diagnosis) were included. All patients had evidence of systemic disease with extrapulmonary localizations of the disease (lymphadenopathy [n = 12], skin [n = 9], bones [n = 6], retroperitoneal involvement [n = 3], sinuses [n = 3], parotid gland [n = 2], submandibular gland [n = 1], and breast [n = 1]). Presenting symptoms were dominated by dyspnea and dry cough in seven patients. Restrictive physiology was observed in two of five patients. BAL showed lymphocytosis in one of five cases. Eight patients received corticosteroids, all but one with variable immunosuppressive or immunomodulatory therapies. Two patients received cobimetinib for severe lung disease, with dramatic pulmonary metabolic and tumoral responses. Two patients died during follow-up: one of hemoptysis, and the other of an unrelated cerebral tumor. CONCLUSIONS: Pulmonary involvement in RDD is rare, proteiform, and sometimes severe. The MEK inhibitor cobimetinib can lead to dramatic responses.
BACKGROUND:Destombes-Rosai-Dorfman disease (RDD) is a rare multisystemic histiocytosis. Pulmonary involvement during RDD has been poorly described. The goal of this study was to examine the clinical presentations, radiological features, and outcomes of 15 patients with RDD and lung involvement. METHODS: The cases of RDD with lung involvement were extracted from the French National Histiocytosis registry. Efficacy of the MEK inhibitor cobimetinib in treating lung disease was evaluated with an 18fluorodeoxyglucose PET scanner and chest CT scans. RESULTS: Fifteen patients (six women; median age, 40 years at RDD diagnosis) were included. All patients had evidence of systemic disease with extrapulmonary localizations of the disease (lymphadenopathy [n = 12], skin [n = 9], bones [n = 6], retroperitoneal involvement [n = 3], sinuses [n = 3], parotid gland [n = 2], submandibular gland [n = 1], and breast [n = 1]). Presenting symptoms were dominated by dyspnea and dry cough in seven patients. Restrictive physiology was observed in two of five patients. BAL showed lymphocytosis in one of five cases. Eight patients received corticosteroids, all but one with variable immunosuppressive or immunomodulatory therapies. Two patients received cobimetinib for severe lung disease, with dramatic pulmonary metabolic and tumoral responses. Two patients died during follow-up: one of hemoptysis, and the other of an unrelated cerebral tumor. CONCLUSIONS: Pulmonary involvement in RDD is rare, proteiform, and sometimes severe. The MEK inhibitor cobimetinib can lead to dramatic responses.
Authors: Kenneth L McClain; Camille Bigenwald; Matthew Collin; Julien Haroche; Rebecca A Marsh; Miriam Merad; Jennifer Picarsic; Karina B Ribeiro; Carl E Allen Journal: Nat Rev Dis Primers Date: 2021-10-07 Impact factor: 65.038