Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease

Author:

Emile Jean-François12,Diamond Eli L.3,Hélias-Rodzewicz Zofia12,Cohen-Aubart Fleur45,Charlotte Frédéric56,Hyman David M.7,Kim Eunhee8,Rampal Raajit8,Patel Minal8,Ganzel Chezi9,Aumann Shlomzion8,Faucher Gladwys12,Le Gall Catherine12,Leroy Karen1011,Colombat Magali12,Kahn Jean-Emmanuel13,Trad Salim14,Nizard Philippe15,Donadieu Jean116,Taly Valérie15,Amoura Zahir45,Abdel-Wahab Omar8ORCID,Haroche Julien45

Affiliation:

1. Unité de Recherche EA 4340, Versailles University, Boulogne, France;

2. Pathology Department, Ambroise Paré Hospital, Assistance Publique - Hôpitaux de Paris, Boulogne, France;

3. Department of Neurology, Memorial Sloan-Kettering Cancer Center, New York, NY;

4. Department of Internal Medicine & French Reference Center for Rare Auto-immune & Systemic Diseases, Hôpital Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France;

5. Pierre and Marie Curie University, Paris, France;

6. Department of Pathology, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris, France;

7. Experimental Therapeutics Unit and

8. Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan-Kettering Cancer Center, New York, NY;

9. Department of Hematology, Shaare Zedek Medical Center, Jerusalem, Israel;

10. Université Paris-Est Créteil, Créteil, France;

11. Department of Pathology, Hospital Henri Mondor, Assistance Publique - Hôpitaux de Paris, Créteil, France;

12. Department of Pathology and

13. Department of Internal Medicine, Foch Hospital, Suresne, France;

14. Department of Internal Medicine, Ambroise Paré Hospital, Assistance Publique - Hôpitaux de Paris, Boulogne, France;

15. Université Paris Sorbonne Cité, INSERM, Paris, France; and

16. Department of Pediatrics & French Reference Center for Langerhans Cell Histiocytosis, Trousseau Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France

Abstract

Key Points PIK3CA and NRAS mutations are recurrent in BRAFV600E wild-type ECD patients. 57.5% (46/80) of ECD patients have a BRAFV600E mutation, and an additional 10.9% and 3.7% have PIK3CA and NRAS mutations, respectively.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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