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ORPHA:402020

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

high confidenceDisorder

Also known as: AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

Publications

34

28.7th percentile

Trials

0

Interventional, condition-specific

Researchers

267

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage . Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, ). High resistance to conventional chemotherapy is reported.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2) · AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    34 matched papers (11 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 trialPartial

    None under the specific name; 2464 for broader category acute myeloid leukemia

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?

34

34 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

34 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).

11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)

Phrase hits: 34 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

267

Distinct author names in 34 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Medeiros LJ4 papers · 2015

    The Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.

    Papers in Europe PMC
  2. 02
    Lin P3 papers · 2015

    The Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.

    Papers in Europe PMC
  3. 03
    Cui W2 papers · 2011

    Dept of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.

    Papers in Europe PMC
  4. 04
    Döhner H2 papers · 2016

    Cancer Genome Project, Wellcome Trust Sanger Institute (E.P., M.G., N.D.R., N.B., G.G., P.V.L., I.M., L.M., S.M., S.O., K.R., D.R.J., J.W.T., A.P.B., P.J.C.), and the European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI) (M.G.), Hinxton, the Centre for Evolution and Cancer, Institute of Cancer Research, London (N.E.P., M.F.G.), and the Department of Haematology, University of Cambridge, Cambridge (N.B.) - all in the United Kingdom; the Departments of Epidemiology and Biostatistics and Cancer Biology, the Center for Molecular Oncology and the Center for Hematologic Malignancies, Memorial Sloan Kettering Cancer Center, New York (E.P.); the Department of Internal Medicine III, Ulm University, Ulm (L.B., V.I.G., P.P., K.D., R.F.S., H.D.), and the Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover (M.H., F.T., A.G.) - both in Germany; the Division of Hematology, Fondazione IRCCS, Istituto Nazionale dei Tumori, and Department of Oncology and Onco-Hematology, University of Milan, Milan (N.B.); the Department of Human Genetics, University of Leuven, Leuven, Belgium (P.V.L.); and the Department of Pathology, University of Otago, Christchurch, New Zealand (P.G., P.J.C.).

    Papers in Europe PMC
  5. 05
    Döhner K2 papers · 2016

    Cancer Genome Project, Wellcome Trust Sanger Institute (E.P., M.G., N.D.R., N.B., G.G., P.V.L., I.M., L.M., S.M., S.O., K.R., D.R.J., J.W.T., A.P.B., P.J.C.), and the European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI) (M.G.), Hinxton, the Centre for Evolution and Cancer, Institute of Cancer Research, London (N.E.P., M.F.G.), and the Department of Haematology, University of Cambridge, Cambridge (N.B.) - all in the United Kingdom; the Departments of Epidemiology and Biostatistics and Cancer Biology, the Center for Molecular Oncology and the Center for Hematologic Malignancies, Memorial Sloan Kettering Cancer Center, New York (E.P.); the Department of Internal Medicine III, Ulm University, Ulm (L.B., V.I.G., P.P., K.D., R.F.S., H.D.), and the Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover (M.H., F.T., A.G.) - both in Germany; the Division of Hematology, Fondazione IRCCS, Istituto Nazionale dei Tumori, and Department of Oncology and Onco-Hematology, University of Milan, Milan (N.B.); the Department of Human Genetics, University of Leuven, Leuven, Belgium (P.V.L.); and the Department of Pathology, University of Otago, Christchurch, New Zealand (P.G., P.J.C.).

    Papers in Europe PMC
  6. 06
    Kantarjian HM2 papers · 2023

    Department of Leukemia, The University of Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0428, Houston, TX 77030 USA.

    Papers in Europe PMC
  7. 07
    Lu X2 papers · 2019

    The Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.

    Papers in Europe PMC
  8. 08
    Press RD2 papers · 2022

    Department of Pathology and Laboratory Medicine and.

    Papers in Europe PMC
  9. 09
    Radhakrishnan S2 papers · 2022

    University of Texas Southwestern Medical Center, Dallas, TX.

    Papers in Europe PMC
  10. 10
    Sun J2 papers · 2011

    Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2,464 trials are registered for acute myeloid leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,464 interventional trials matched acute myeloid leukemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: acute myeloid leukemia

2,464

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" OR "AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" OR "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" OR "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)"

Run this search on Europe PMC

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

"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" OR "AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" OR "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" OR "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acute myeloid leukemia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T15:30:06.261Z