Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients
Francesco Pegoraro(Meyer Children's Hospital), Martina Mazzariol(Meyer Children's Hospital), Irene Trambusti(University of Pisa), Sameer Bakhshi(All India Institute of Medical Sciences), Saumyaranjan Mallick(All India Institute of Medical Sciences), Ira J. Dunkel(Memorial Sloan Kettering Cancer Center), Cor van den Bos(Princess Máxima Center), Özlem Tezol(Mersin Üniversitesi), Shijun Shan(China Medical University), Süheyla Ocak(Istanbul University-Cerrahpaşa), Flavio Giordano(Meyer Children's Hospital), Carmela Fusco, Stefania Gaspari(Bambino Gesù Children's Hospital), Anna Maria Buccoliero(Meyer Children's Hospital), Maria Luisa Coniglio(Meyer Children's Hospital), Elisa Buti(Meyer Children's Hospital), Paola Romagnani(Meyer Children's Hospital), Jennifer Picarsic(Cincinnati Children's Hospital Medical Center), Jean Donadieu(Université de Versailles Saint-Quentin-en-Yvelines), Eli L. Diamond(Memorial Sloan Kettering Cancer Center), Jean‐François Emile(Université de Versailles Saint-Quentin-en-Yvelines), Elena Sieni(Meyer Children's Hospital), Julien Haroche(Sorbonne Université), Augusto Vaglio(Meyer Children's Hospital)
Cited by 24Open Access
Abstract
Erdheim-Chester disease (ECD) is a rare histiocytic disorder that can present as a localized infiltration of foamy histiocytes or a multisystem disease that may be life-threatening. It is extremely rare in children. Pegoraro and colleagues present the clinical and molecular features of 21 patients with pediatric ECD through a large international collaboration, documenting that it resembles its adult counterpart, with similar molecular features and responses to agents targeting BRAF and MEK.
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