Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients

Author:

Pegoraro Francesco12ORCID,Mazzariol Martina34,Trambusti Irene25ORCID,Bakhshi Sameer6,Mallick Saumyaranjan7ORCID,Dunkel Ira J.8ORCID,van den Bos Cor9,Tezol Özlem10,Shan Shijun11,Ocak Suheyla12ORCID,Giordano Flavio1314ORCID,De Fusco Carmela15,Gaspari Stefania16,Buccoliero Anna Maria17,Coniglio Maria Luisa2,Buti Elisa4,Romagnani Paola418,Picarsic Jennifer19ORCID,Donadieu Jean20ORCID,Diamond Eli L.21ORCID,Emile Jean-François22ORCID,Sieni Elena2ORCID,Haroche Julien23,Vaglio Augusto418

Affiliation:

1. 1Department of Health Sciences, University of Florence, Florence, Italy

2. 2Hematology and Oncology Unit, Meyer Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy

3. 3Department of Medical Sciences, University of Turin, Turin, Italy

4. 4Nephrology and Dialysis Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

5. 5Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

6. 6Department of Medical Oncology, All India Institute of Medical Sciences, New Delhi, India

7. 7Department of Pathology, All India Institute of Medical Sciences, New Delhi, India

8. 8Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY

9. 9Department of Hemato-Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

10. 10Department of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey

11. 11Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China

12. 12Department of Pediatric Hematology-Oncology, Istanbul University Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey

13. 13Department of Neurosurgery, Meyer Children’s Hospital IRCCS, Florence, Italy

14. 14NEUROFARBA Department, University of Florence, Florence, Italy

15. 15Department of Oncology, Azienda Ospedaliera di Rilievo Nazionale Santobono-Pausilipon, Pausilipon Hospital, Naples, Italy

16. 16Department of Pediatric Hematology/Oncology, Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

17. 17Pathology Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

18. 18Department of Biomedical, Experimental and Clinical Sciences "Mario Serio," University of Florence, Florence, Italy

19. 19Cincinnati Children’s Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, OH

20. 20Pediatric Oncology and Hematology, Armand-Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, EA4340-BECCOH, Referral Center for Histiocytoses Université de Versailles Saint-Quentin-en-Yvelines, Paris, France

21. 21Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY

22. 22EA4340 BECCOH, Université de Versailles Saint-Quentin-en-Yvelines, Service de Pathologie, Hôpital Ambroise Paré, Assistance Publique–Hôpitaux de Paris, Boulogne, France

23. 23Department of Internal Medicine, Institut E3M French Reference Centre for Histiocytosis, Pitié-Salpȇtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3