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ORPHA:86834

Juvenile myelomonocytic leukemia

medium confidenceDisorder

Also known as: JMML · Juvenile chronic myelomonocytic leukemia

Publications

3,127

95.1th percentile

Trials

56

Interventional, condition-specific

Researchers

1,418

Distinct authors in sample

Gene link

ARHGAP26, CBL

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

JCML · juvenile chronic myelogenous leukaemia · juvenile chronic myelogenous leukemia · juvenile chronic myeloid leukaemia · juvenile chronic myeloid leukemia · juvenile chronic myelomonocytic leukaemia · juvenile chronic myelomonocytic leukemia · juvenile myelomonocytic leukemia · juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation · leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation · leukemia, juvenile myelomonocytic, somatic

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — ARHGAP26, CBL

  2. LiteraturePresent

    3,127 matched papers (1,708 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    56 matched on ClinicalTrials.gov (9 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?

Yes — we know a specific gene responsible (ARHGAP26, CBL).

GenCC classification: Strong.

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?

3,127

3,127 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.

3,127 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).

1,708 in the last 10 years · medium confidence · 95.1th percentile (publications denominator)

Phrase hits: 3,124 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,418

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.

  1. 01
    Stieglitz E13 papers · 2026

    Department of Pediatrics, Benioff Children's Hospitals, University of California, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.

    Papers in Europe PMC
  2. 02
    Erlacher M9 papers · 2026

    University of Freiburg, Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, Freiburg, Germany

    Papers in Europe PMC
  3. 03
    Muramatsu H9 papers · 2026

    Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  4. 04
    Chen Y8 papers · 2026

    Pediatric Hematology Laboratory, Division of Hematology/Oncology, Department of Pediatrics, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China.

    Papers in Europe PMC
  5. 05
    Flotho C8 papers · 2026

    University of Freiburg, Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, Freiburg, Germany

    Papers in Europe PMC
  6. 06
    Zhang L8 papers · 2026

    Department of Hematology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, P. R. China.

    Papers in Europe PMC
  7. 07
    Niemeyer CM7 papers · 2026

    Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  8. 08
    Rajak J6 papers · 2026

    University of Freiburg, Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, Freiburg, Germany

    Papers in Europe PMC
  9. 09
    Strullu M6 papers · 2026

    AP-HP, hôpital Robert-Debré, service d'hémato-immunologie pédiatrique, Paris, France; Université Paris-Cité, institut universitaire d'hématologie, Inserm UMR1131, Paris, France. Electronic address: marion.strullu@aphp.fr.

    Papers in Europe PMC
  10. 10
    Tasian SK6 papers · 2026

    Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

56

interventional trials for this specific condition

56 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

56 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.3th percentile).

medium confidence · 97.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

56 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Juvenile myelomonocytic leukemia" OR "Juvenile chronic myelomonocytic leukemia" OR "juvenile chronic myelogenous leukaemia" OR "juvenile chronic myelogenous leukemia" OR "juvenile chronic myeloid leukaemia" OR "juvenile chronic myeloid leukemia" OR "juvenile chronic myelomonocytic leukaemia" OR "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" OR "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" OR "leukemia, juvenile myelomonocytic, somatic"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukemia, Myelomonocytic, Juvenile

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Juvenile myelomonocytic leukemia" OR "Juvenile chronic myelomonocytic leukemia" OR "juvenile chronic myelogenous leukaemia" OR "juvenile chronic myelogenous leukemia" OR "juvenile chronic myeloid leukaemia" OR "juvenile chronic myeloid leukemia" OR "juvenile chronic myelomonocytic leukaemia" OR "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" OR "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" OR "leukemia, juvenile myelomonocytic, somatic" OR "Leukemia, Myelomonocytic, Juvenile" OR "ARHGAP26" OR "CBL"

Recall-expansion terms: ARHGAP26, CBL

Interventional trials matched via: both, 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: 56 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JMML; JCML

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T03:09:00.833Z