ArticleNature medicine2019
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Erratum issuedOpen access · bronzeAbstract read
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Article in Nature medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 120 papers.
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0cells of the map it votes in
120citing papers in PubMed
11.7field-weighted citation impact, top 1% of its field
What it found
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Who cites it
120 citing papers in PubMed, 220 citations in OpenAlex.
- Tumour-agnostic efficacy and safety of selpercatinib in patients with RET fusion-positive solid tumours other than lung or thyroid tumours (LIBRETTO-001): a phase 1/2, open-label, basket trial.The Lancet. Oncology · 2022Trial
- Langerhans cell histiocytosis: molecular mechanisms underlying pathogenesis and emerging targeted therapeutics.Cancer metastasis reviews · 2026Review
- Class 3 MAP2K1 mutations associate with relapse and multiple treatment lines in multisystem Langerhans cell histiocytosis.Blood advances · 2026Article
- Pediatric Rosai-Dorfman-Destombes Disease: From Isolated Cervical Lymphadenopathy to Multisystem Disease.Cureus · 2026Article
- Novel BRAF fusion in Erdheim-Chester disease with pulmonary manifestations: Importance of RNA-based testing and response to MEK inhibition.Histopathology · 2026Article
- Histiocytosis development and clinical variation through the lens of genomics.The Journal of pathology · 2026Review
- Red-yellow Papules and Nodules All over the Body: A Quiz.Acta dermato-venereologica · 2026Article
- Article
- Sustained remission after discontinuation of ALK inhibition in ALK-positive histiocytosis.Blood cancer journal · 2026Article
- Immunohistochemistry-Based Screening for Targetable Kinase Alterations in Non-Langerhans Cell Histiocytosis with Juvenile Xanthogranuloma morphology.Virchows Archiv : an international journal of pathology · 2026Article
- Histiocytoses and reactive proliferations of histiocytes: current state of the art and evolving concepts-a report from the joint CSHP-EA4HP-SH workshop 2024, Hefei, China.Virchows Archiv : an international journal of pathology · 2026Review
- RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.Cancer cell · 2026Article
- Delayed Neurologic Response to Dabrafenib and Trametinib in the Case of Mixed Histiocytosis (LCH/ECD): Case Report and Literature Review.Reports (MDPI) · 2026Article
- The xanthogranuloma family of histiocytic neoplasms in the molecular era: Erdheim-Chester disease and beyond.Hematology. American Society of Hematology. Education Program · 2025Review
- Histiocyte Society blueprint for non-Langerhans cell histiocytosis research: unraveling complex diseases through collaboration.Haematologica · 2025Review
- Erdheim-Chester Disease Mimicking a Malignant Pituitary Stalk Tumor With Ventricular Dissemination: A Case Report.Brain tumor research and treatment · 2025Article
- Histiocytic Sarcoma: A Review and Update.International journal of molecular sciences · 2025Review
- Molecular profiling is critical to guide MEK inhibitor use in Erdheim-Chester disease.Leukemia · 2025Article
- BRAF V600E-Mutant Diffuse Pulmonary Langerhans Cell Histiocytosis Successfully Treated With Dabrafenib Plus Trametinib: A Case Report.Respirology case reports · 2025Article
- Impact of Sex on Lung Function in Adult Langerhans Cell Histiocytosis.Life (Basel, Switzerland) · 2025Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
36 authors at 7 institutions in 4 countries.
Benjamin H Durham *Human Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Estibaliz Lopez Rodrigo *Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Jennifer Picarsic *UPMC Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0002-3718-6422
David AbramsonOphthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Veronica RotembergDepartment of Dermatology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Steven De MunckDepartment of Biochemistry and Microbiology, Ghent University, Ghent, Belgium.
Erwin PannecouckeDepartment of Biochemistry and Microbiology, Ghent University, Ghent, Belgium.
Sydney X LuHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Alessandro PastoreHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-3621-4807
Akihide YoshimiHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-0664-7281
Diana MandelkerDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ozge Ceyhan-BirsoyDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Gary A UlanerDepartment of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Michael WalshDepartment of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Mariko YabeDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kseniya Petrova-DrusDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Maria E ArcilaDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Marc LadanyiHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
David B SolitHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-6614-802X
Michael F BergerHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
David M HymanDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-8150-9762
Mario E LacoutureDepartment of Dermatology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Caroline EricksonHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ruth SagantyHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Michelle KiHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ira J DunkelDepartment of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-8091-6067
Vicente Santa-María LópezDivision of Pediatric Oncology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Jaume MoraDivision of Pediatric Oncology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.ORCID http://orcid.org/0000-0002-9386-5980
Julien HarocheDepartment of Internal Medicine, Assistance Publique-Hôpitaux de Paris, Centre de référence des histiocytosesUniversity Hospital La Pitié-Salpêtrière, Paris, France.
Jean-Francois EmileDepartment of Pathology, APHP, University Hospital Ambroise Paré, Boulogne, France.ORCID http://orcid.org/0000-0002-6073-4466
Olivier DecauxService d'Hématologie Clinique, Hôpital Pontchaillou CHU Rennes, Rennes, France.
Frederic GeissmannImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Savvas N SavvidesDepartment of Biochemistry and Microbiology, Ghent University, Ghent, Belgium.
Alexander DrilonDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-6806-9061
Eli L DiamondDepartment of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. diamone1@mskcc.org.ORCID http://orcid.org/0000-0001-5456-5961
Omar Abdel-WahabHuman Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. abdelwao@mskcc.org.ORCID http://orcid.org/0000-0002-3907-6171
Memorial Sloan Kettering Cancer Center · USGhent University · BEHospital Sant Joan de Déu Barcelona · ESHôpital Ambroise-Paré · FRHôpital Pontchaillou · FRSorbonne Université · FRUniversity of Pittsburgh · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MUniversity of Pittsburgh Clinical and Translational Science InstituteUL1TR001857 · NCATS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E · 2016 to 2025
$129.3MMacrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7MLineages and pathophysiology of clonal histiocytic disordersR01HL138090 · NHLBI · SLOAN-KETTERING INST CAN RESEARCH · PI GEISSMANN, FREDERIC · 2017 to 2020
$2.9MOrigins of BRAF-mutant hematologic malignancies and their therapeutic resistanceR01CA201247 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI ABDEL-WAHAB, OMAR, PARK, CHRISTOPHER Y · 2016 to 2020
$2.7MCellular Origins, Molecular Pathogenesis, and Novel Therapeutic Strategies for MAP Kinase-Driven Hematological MalignanciesK08CA218901 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI DURHAM, BENJAMIN HEATH · 2018 to 2022
$1.0MNCATS NIH HHS UL1 TR001857NCI NIH HHS K08 CA218901NCI NIH HHS L30 CA231804NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA201247NHLBI NIH HHS R01 HL138090NIAID NIH HHS R01 AI130345
Abstract
Histiocytoses are clonal hematopoietic disorders frequently driven by mutations mapping to the BRAF and MEK1 and MEK2 kinases. Currently, however, the developmental origins of histiocytoses in patients are not well understood, and clinically meaningful therapeutic targets outside of BRAF and MEK are undefined. In this study, we uncovered activating mutations in CSF1R and rearrangements in RET and ALK that conferred dramatic responses to selective inhibition of RET (selpercatinib) and crizotinib, respectively, in patients with histiocytosis.
Indexed as
AdolescentAdultAminopyridinesAnaplastic Lymphoma KinaseBenzothiazolesChildChild, PreschoolExome SequencingFemaleGenome, HumanHematologic NeoplasmsHistiocytosisHumansInfantMaleMutation4-(2-(2-hydroxycyclohexylamino)benzothiazol-6-yloxy)pyridine-2-carboxylic acid methylamideALK protein, humanAminopyridinesAnaplastic Lymphoma KinaseBenzothiazolesCSF1R protein, humanpexidartinibPicolinic AcidsProtein Kinase InhibitorsProto-Oncogene Proteins c-retPyrazolesPyridinesPyrrolesReceptor, Macrophage Colony-Stimulating FactorReceptor Protein-Tyrosine KinasesReceptors, Granulocyte-Macrophage Colony-Stimulating FactorRET protein, humanselpercatinib
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