C Meni1,2, S Georgin-Lavialle3,4, L Le Saché de Peufeilhoux1, J P Jais5,6, S Hadj-Rabia1,6,7, J Bruneau6,8, S Fraitag8, K Hanssens2,9, P Dubreuil2,9, O Hermine2,6,7,10,11, C Bodemer1,2,6,7. 1. Service de Dermatologie, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France. 2. Centre de reference des mastocytoses, CEREMAST, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France. 3. Service de Médecine Interne, Hôpital Tenon, 20 rue de la Chine, 75020, Paris, France. 4. Faculté de Médecine, Université Pierre et Marie Curie, Paris, France. 5. Service de Biostatistiques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France. 6. Faculté de Médecine, Université Paris Descartes, Paris Sorbonne Cité, Paris, France. 7. Inserm U1163, Institut Imagine, 149 rue des Sèvres, 75743, Paris, Cedex, 15, France. 8. Service d'Anatomie et Cytologie Pathologiques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France. 9. Inserm U1068, CRCM, Signaling, Hematopoiesis and Mechanism of Oncogenesis, Institut Paoli-Calmettes, Université d'Aix-Marseille, F-13284, CNRS, UMR7258, Marseille, F-13009, France. 10. CNRS ERL 8254 and Laboratory of Physiopathology and Treatment of Hematological Disorders, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France. 11. Service d'Hématologie Adultes, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743, Paris, Cedex, 15, France.
Abstract
BACKGROUND: Mastocytosis is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells. The adult and paediatric forms differ in their clinical and genetic features and outcomes. OBJECTIVES: To describe the clinical evolution of a well-characterized cohort of paediatric mastocytosis (PM), and to analyse the relationship between KIT mutation and the clinical course. METHODS: This was a prospective cohort study performed at the National Clinical Reference Center for Mastocytosis. Diagnosis was confirmed by identification of KIT mutation on lesional skin biopsy. Mastocytosis subtype, mast cell mediator-related symptoms (MC MRS) and clinical course were recorded. Fifty-three patients with PM and > 4 years of disease course were enrolled. The mean ± SD age at the final evaluation was 13·2 ± 4·8 years. The main outcome was the type of KIT mutation as a predictor of evolution and clinical characteristics. RESULTS: Patients presented with maculopapular cutaneous mastocytosis (n = 44), diffuse cutaneous mastocytosis (n = 6) or mastocytoma (n = 3). The mean duration of disease was 12·1 years. Substantial or partial cutaneous regression (18 of 53 and 16 of 53), stabilization or aggravation (16 of 53) and complete cutaneous regression (three of 53) were noted. MC MRS mainly regressed (21 of 53). For 22 patients, evolution of MC MRS and evolution of cutaneous lesions were different. No significant association between evolution and KIT mutation or between evolution and type of cutaneous mastocytosis was found. A late onset of the disease (after 2 years) is associated with worse evolution. CONCLUSIONS: PM is not systematically self-regressive. MC MRS manifestations and cutaneous lesions can persist or increase overtime. KIT mutation is not a predictor of evolution.
BACKGROUND:Mastocytosis is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells. The adult and paediatric forms differ in their clinical and genetic features and outcomes. OBJECTIVES: To describe the clinical evolution of a well-characterized cohort of paediatric mastocytosis (PM), and to analyse the relationship between KIT mutation and the clinical course. METHODS: This was a prospective cohort study performed at the National Clinical Reference Center for Mastocytosis. Diagnosis was confirmed by identification of KIT mutation on lesional skin biopsy. Mastocytosis subtype, mast cell mediator-related symptoms (MCMRS) and clinical course were recorded. Fifty-three patients with PM and > 4 years of disease course were enrolled. The mean ± SD age at the final evaluation was 13·2 ± 4·8 years. The main outcome was the type of KIT mutation as a predictor of evolution and clinical characteristics. RESULTS:Patients presented with maculopapular cutaneous mastocytosis (n = 44), diffuse cutaneous mastocytosis (n = 6) or mastocytoma (n = 3). The mean duration of disease was 12·1 years. Substantial or partial cutaneous regression (18 of 53 and 16 of 53), stabilization or aggravation (16 of 53) and complete cutaneous regression (three of 53) were noted. MCMRS mainly regressed (21 of 53). For 22 patients, evolution of MCMRS and evolution of cutaneous lesions were different. No significant association between evolution and KIT mutation or between evolution and type of cutaneous mastocytosis was found. A late onset of the disease (after 2 years) is associated with worse evolution. CONCLUSIONS: PM is not systematically self-regressive. MCMRS manifestations and cutaneous lesions can persist or increase overtime. KIT mutation is not a predictor of evolution.
Authors: Peter Valent; Cem Akin; Patrizia Bonadonna; Karin Hartmann; Knut Brockow; Marek Niedoszytko; Boguslaw Nedoszytko; Frank Siebenhaar; Wolfgang R Sperr; Joanna N G Oude Elberink; Joseph H Butterfield; Ivan Alvarez-Twose; Karl Sotlar; Andreas Reiter; Hanneke C Kluin-Nelemans; Olivier Hermine; Jason Gotlib; Sigurd Broesby-Olsen; Alberto Orfao; Hans-Peter Horny; Massimo Triggiani; Michel Arock; Lawrence B Schwartz; Dean D Metcalfe Journal: J Allergy Clin Immunol Pract Date: 2019-02-05
Authors: Magdalena Lange; Karin Hartmann; Melody C Carter; Frank Siebenhaar; Ivan Alvarez-Twose; Inés Torrado; Knut Brockow; Joanna Renke; Ninela Irga-Jaworska; Katarzyna Plata-Nazar; Hanna Ługowska-Umer; Justyna Czarny; Anna Belloni Fortina; Francesca Caroppo; Roman J Nowicki; Bogusław Nedoszytko; Marek Niedoszytko; Peter Valent Journal: Int J Mol Sci Date: 2021-03-04 Impact factor: 5.923