ORPHA:168940
Chronic eosinophilic leukemia
Publications
2,235
Trials
44
Interventional, condition-specific
Researchers
1,250
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral , central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015687
- MeSH:C580364
- UMLS:C0346421
- NCIT:C4563
Additional Mondo synonyms (6)
CEL · CEL/hypereosinophilic syndrome · chronic eosinophilic leukemia · chronic eosinophilic leukemia/hypereosinophilic syndrome · eosinophilic leukaemia · eosinophilic leukemia
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,235 matched papers (1,012 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
44 matched on ClinicalTrials.gov (2 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2,235
2,235 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,235 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,012 in the last 10 years · low confidence
Phrase hits: 2,235 · MeSH hits: 1
Who's working on it?
1,250
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Gotlib J7 papers · 2026
Division of Hematology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA.
Papers in Europe PMC - 02Reiter A7 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 03Wang Y5 papers · 2026
Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, 111 East 210 Street, Bronx 10467, NY, USA.
Papers in Europe PMC - 04Arber DA4 papers · 2025
Department of Pathology, University of Chicago, IL, Chicago, USA.
Papers in Europe PMC - 05Hasserjian RP4 papers · 2024
Department of Pathology, Mass General Brigham, Harvard Medical School, Boston, MA, USA. rhasserjian@mgh.harvard.edu.
Papers in Europe PMC - 06Lübke J4 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 07Metzgeroth G4 papers · 2025
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 08Orazi A4 papers · 2025
Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX, USA.
Papers in Europe PMC - 09Schwaab J4 papers · 2025
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 10Chen M3 papers · 2025
Department of Hematology, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, 300381, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
44
interventional trials for this specific condition
44 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
44 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.7th percentile).
low confidence · 96.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
44 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07257640·RECRUITING·IL-5 CAR-T Cell Therapy for Refractory/Relapsed Eosinophilic Leukemia
Conditions: Hematologic Diseases · Neoplasms·Matched via name phrase
- NCT03801434·RECRUITING·Ruxolitinib in Treating Patients With Hypereosinophilic Syndrome or Primary Eosinophilic Disorders
Conditions: BCR-JAK2 Fusion Protein Expression · Blasts 20 Percent or Less of Peripheral Blood White Cells · Blasts More Than 5 Percent of Bone Marrow Nucleated Cells · Blasts More Than 5 Percent of Peripheral Blood White Cells·Matched via name phrase
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT02760238·RECRUITING·Myeloproliferative Neoplasms (MPNs) Patient Registry
Conditions: Primary Myelofibrosis · Polycythemia Vera · Essential Thrombocythemia · Mastocytosis·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Chronic eosinophilic leukemia" OR "CEL/hypereosinophilic syndrome" OR "chronic eosinophilic leukemia/hypereosinophilic syndrome" OR "eosinophilic leukaemia" OR "eosinophilic leukemia"
MeSH descriptor terms unioned into the query: Pdgfra-Associated Chronic Eosinophilic Leukemia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chronic eosinophilic leukemia" OR "CEL/hypereosinophilic syndrome" OR "chronic eosinophilic leukemia/hypereosinophilic syndrome" OR "eosinophilic leukaemia" OR "eosinophilic leukemia" OR "Pdgfra-Associated Chronic Eosinophilic Leukemia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 44 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CEL
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2235) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T08:31:47.393Z