Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease: MYELODYSPLASTIC NEOPLASM

Michelangelo Tesi; Francesco Pegoraro; Francesco Peyronel; Jean-François Emile; Francesco Catamerò; Matthew J. Koster; Gaurav Goyal; Matthew Collin; Paul Milne; Samia Boussouar; Fleur Cohen-Aubart; Matthias Papo; Zahir Amoura; Juvianee I. Estrada-Veras; Kevin O’Brien; Jerome Razanamahery; Radjiv Goulabchand; Ahmed Idbaih; Mathilde de Menthon; Noemie Gensous; Achille Aouba; Emmanuel Ledoult; Tanguy Le Scornet; Antoine Néel; Ronald S. Go; Roei D. Mazor; Corrado Campochiaro; Lorenzo Dagna; Eli L. Diamond; Augusto Vaglio; Julien Haroche

doi:10.1038/s41375-025-02656-w

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Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease: MYELODYSPLASTIC NEOPLASM

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Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease: MYELODYSPLASTIC NEOPLASM

Michelangelo Tesi, Francesco Pegoraro, Francesco Peyronel, Jean-François Emile, Francesco Catamerò, Matthew J. Koster, Gaurav Goyal, Matthew Collin, Paul Milne, Samia Boussouar, …

Leukemia, Vol.39(8), pp.1987-1996

08/2025

DOI: https://doi.org/10.1038/s41375-025-02656-w

Résumé

692/308/174

692/420/2489/144

692/699/1541/1990

Cancer Research

Critical Care Medicine

Hematology

Intensive

Internal Medicine

Medicine

Medicine & Public Health

Oncology

Erdheim-Chester disease (ECD) is a clonal-inflammatory neoplasm driven by mutations in MAPK pathway proto-oncogenes, such as BRAF . Clinical manifestations are protean, affecting virtually every system. This cohort study analyzed 661 patients with ECD to classify them based on clinical features and mutational profiles using unsupervised clustering. Nineteen clinical and mutational variables were subjected to hierarchical clustering combined with k-means. A three-cluster model emerged as the most stable. Most patients were classified according to key features, namely BRAF V600E mutation, and large-vessel, heart, and perirenal involvement. The “Widespread Disease” (WID) cluster (320 patients, 49%) was associated with the presence of the key features and the “Limited Disease” (LIM) cluster (282 patients, 42%) was associated with their absence. The “ MAP2K1 -RDD” cluster (MAP) was assigned 59 patients (9%), based on MAP2K1 mutation and/or overlapping Rosai-Dorfman-Destombes disease (RDD). Survival analysis revealed worse outcomes for WID compared to LIM (hazard ratio 1.54, 95% CI 1.09–2.17), while no significant survival difference was found for MAP. The identification of these clusters, based on mutational profiles, organ involvement and overlapping conditions, offers a data-driven validation of established clinical observations. These findings substantiate the role of the somatic mutation type in shaping the ECD phenotype.

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Titre: Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease
Créateurs - sans rôle: Michelangelo Tesi - Nephrology and Dialysis Unit, Meyer Children’s Hospital IRCCS
Francesco Pegoraro - Department of Experimental and Clinical Medicine, University of Firenze, Department of Hematology and Oncology, Meyer Children’s Hospital IRCCS
Francesco Peyronel - Nephrology, Dialysis and Transplant Unit, Careggi University Hospital
Jean-François Emile - Pathology Department, Ambroise-Paré Hospital
Francesco Catamerò - Department of Health Sciences, University of Firenze
Matthew J. Koster - Rheumatology, Mayo Clinic
Gaurav Goyal - Hematology-Oncology, University of Alabama at Birmingham
Matthew Collin - Haematology, Newcastle Upon Tyne Hospitals NHS Foundation Trust
Paul Milne - Haematology, Newcastle Upon Tyne Hospitals NHS Foundation Trust
Samia Boussouar - Assistance Publique – Hôpitaux de Paris
Fleur Cohen-Aubart - Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP
Matthias Papo - Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP
Zahir Amoura - Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP
Juvianee I. Estrada-Veras - Pediatrics and Medical Genetics, NIH
Kevin O’Brien - Pediatrics and Medical Genetics, NIH
Jerome Razanamahery - Department of Internal Medicine and Clinical Immunology, Dijon University Hospital
Radjiv Goulabchand - Inserm
Ahmed Idbaih - Assistance Publique – Hôpitaux de Paris
Mathilde de Menthon - Paris-Saclay University, Internal Medicine and Clinical Immunology Department, Bicetre Hospital, Assistance Publique - Hôpitaux de Paris
Noemie Gensous - Department of Internal Medicine and Clinical Immunology, CHU Bordeaux, Hôpital Saint-André
Achille Aouba - Department of Internal Medicine, University Hospital Centre Caen
Emmanuel Ledoult - Institute for Translational Research in Inflammation
Tanguy Le Scornet - Internal Medicine Department, Hotel Dieu, Nantes University Hospital
Antoine Néel - CEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital
Ronald S. Go - Division of Hematology, Mayo Clinic
Roei D. Mazor - Institute of Hematology, Assuta Medical Center
Corrado Campochiaro - Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University
Lorenzo Dagna - Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University
Eli L. Diamond - Neuro-oncology, Memorial Sloan Kettering Cancer Center
Augusto Vaglio - Nephrology and Dialysis Unit, Meyer Children’s Hospital IRCCS, Department of Biomedical, Experimental and Clinical Sciences “Mario Serio”, University of Firenze
Julien Haroche - Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP
Détails de publication: Leukemia, Vol.39(8), pp.1987-1996
Éditeur: Nature Publishing Group UK
Note de subvention: Erdheim-Chester Disease Global Alliance Current Research Annual Funding / Ministero della Salute (Ministry of Health, Italy) (https://doi.org/10.13039/501100003196)
Identifiants: 99139164209311
Unité académique: Institut Desbrest d Epidemiologie et de Sante Publique - IDESP
Langue: English
Type de ressource: Journal article