Evidence map›Paper›PMID 40437172›Full record

ArticleLeukemia2025

Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease.

Michelangelo Tesi, Francesco Pegoraro, Francesco Peyronel, Jean-François Emile, Francesco Catamerò, Matthew J Koster, Gaurav Goyal, Matthew Collin, Paul Milne, Samia Boussouar and 21 more

Abstract read
In one paragraph

Article in Leukemia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors.

Michelangelo TesiNephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Firenze, Italy.ORCID 0000-0001-5500-9991
Francesco PegoraroDepartment of Experimental and Clinical Medicine, University of Firenze, Firenze, Italy.ORCID 0000-0002-4954-5744
Francesco PeyronelNephrology, Dialysis and Transplant Unit, Careggi University Hospital, Florence, Italy.
Jean-François EmilePathology Department, Ambroise-Paré Hospital, Boulogne, France.ORCID 0000-0002-6073-4466
Francesco CatameròDepartment of Health Sciences, University of Firenze, Firenze, Italy.ORCID 0009-0001-5633-9025
Matthew J KosterRheumatology, Mayo Clinic, Rochester, MN, USA.
Gaurav GoyalHematology-Oncology, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0001-6148-5177
Matthew CollinHaematology, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paul MilneHaematology, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID 0000-0002-8278-0463
Samia BoussouarInstitut de Cardiométabolisme et Nutrition (ICAN), Service de Radiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
Fleur Cohen-AubartDepartement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.
Matthias PapoDepartement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.
Zahir AmouraDepartement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.
Juvianee I Estrada-VerasPediatrics and Medical Genetics, NIH, Bethesda, MD, USA.ORCID 0000-0002-2372-0372
Kevin O'BrienPediatrics and Medical Genetics, NIH, Bethesda, MD, USA.
Jerome RazanamaheryDepartment of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France.
Radjiv GoulabchandDesbrest Institute of Epidemiology and Public Health, University of Montpellier and INSERM, Montpellier, France.
Ahmed IdbaihSorbonne Université, AP-HP, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, DMU Neurosciences, Service de Neuro-Oncologie-Institut de Neurologie, Paris, France.
Mathilde de MenthonParis-Saclay University, Internal Medicine and Clinical Immunology Department, Bicetre Hospital, Assistance Publique - Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Noemie GensousDepartment of Internal Medicine and Clinical Immunology, CHU Bordeaux, Hôpital Saint-André, Bordeaux, France.ORCID 0000-0002-8428-616X
Achille AoubaDepartment of Internal Medicine, University Hospital Centre Caen, Caen, Basse-Normandie, France.
Emmanuel LedoultU1286-INFINITE-Institute for Translational Research in Inflammation, INSERM, Université de Lille, CHU Lille, Lille, France.
Tanguy Le ScornetInternal Medicine Department, Hotel Dieu, Nantes University Hospital, Nantes, France.
Antoine NéelCEREMAST, the Department of Internal Medicine, Hôtel-Dieu University Hospital, Nantes, France.
Ronald S GoDivision of Hematology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-8284-3495
Roei D MazorInstitute of Hematology, Assuta Medical Center, Tel Aviv, Israel.
Corrado CampochiaroUnit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milano, Italy.
Lorenzo DagnaUnit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milano, Italy.ORCID 0000-0002-7428-315X
Eli L DiamondNeuro-oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0001-5456-5961
Augusto Vaglio *Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Firenze, Italy. augusto.vaglio@unifi.it.ORCID 0000-0002-3814-9172
Julien Haroche *Departement of Internal Medicine, Center of reference of Histiocytosis, Hôpital Pitié-Salpêtrière, Sorbonne University, APHP, Paris, France.ORCID 0009-0003-9794-1316

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Molecular Pathogenesis and Therapy of Systemic Histiocytic NeoplasmsR37CA259260 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Eli Lous Diamond · 2021 to 2026
$3.3M
Ministero della Salute (Ministry of Health, Italy) Current Research Annual FundingNCI NIH HHS P30 CA008748NCI NIH HHS R37 CA259260
6 · The paper itself

Abstract

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

Indexed as

Erdheim-Chester DiseaseMutationAdolescentAdultAgedCluster AnalysisCohort StudiesFemaleFollow-Up StudiesHumansMaleMAP Kinase Kinase 1Middle AgedPrognosisProto-Oncogene Proteins B-rafYoung AdultBRAF protein, humanMAP2K1 protein, humanMAP Kinase Kinase 1Proto-Oncogene Proteins B-raf

Identifiers

PMID40437172
PMCPMC12865793

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.