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ORPHA:102724

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

high confidenceDisorder

Also known as: AML with t(8;21)(q22;q22) translocation

Publications

10

17.7th percentile

Trials

0

Interventional, condition-specific

Researchers

107

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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

    10 matched papers (4 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?

10

10 papers have ever been indexed 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.

10 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).

4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)

Phrase hits: 10 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

107

Distinct author names in 10 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
    Akagi T1 paper · 2009

    Division of Hematology and Oncology, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA. tadayuki@staff.kanazawa-u.ac.jp

    Papers in Europe PMC
  2. 02
    Alonzo T1 paper · 2015

    Kim Klein, Gertjan Kaspers, Jacqueline Cloos, and Mathilda Bongers, Vrije Universiteit University Medical Center Amsterdam; Gertjan Kaspers and Ardine Reedijk, Dutch Childhood Oncology Group, The Hague; H. Berna Beverloo, Erasmus Medical Center, Rotterdam, the Netherlands; Christine J. Harrison, Newcastle University, Newcastle upon Tyne; Brenda Gibson, Royal Hospital for Sick Children, Glasgow, United Kingdom; Andrea Pession, Italian Association of Pediatric Hematology Oncology, Bologna, Italy; Dirk Reinhardt, Berlin-Frankfurt-Münster (BFM) -Germany, Essen; Martin Zimmerman and Ursula Creutzig, BFM-Germany, Hannover, Germany; Michael Dworzak, BFM-Austria, Vienna, Austria; Todd Alonzo, Donna Johnston, and Betsy Hirsch, Children's Oncology Group (COG) including Children's Cancer Group and Pediatric Oncology Group, Philadelphia (COG chair's office), PA; Michal Zapotocky, Czech Paediatric Hematology Working Group, Prague, Czech Republic; Barbara De Moerloose, European Organisation for Research and Treatment of Cancer-Children's Leukemia Group, Brussels, Belgium; Alcira Flynn, Grupo Argentino de Tratamiento de la Leucemia Aguda, Buenos Aires, Argentina; Vincent Lee, Hong Kong Paediatric Haematology and Oncology Study Group, Hong Kong, Special Administrative Region, People's Republic of China; Takashi Taga, Japanese Pediatric Leukemia/Lymphoma Study Group, Otsu; Akio Tawa, Japanese Pediatric Leukemia/Lymphoma Study Group, Osaka, Japan; Anne Auvrignon, French Leucémie Aiguë Myéloblastique Enfant Cooperative Group, Paris, France; Bernward Zeller, Nordic Society of Paediatric Haematology and Oncology, Oslo, Norway; Erik Forestier, Nordic Society of Paediatric Haematology and Oncology, Umeå, Sweden; Carmen Salgado, The National Program for Antineoplastic Drugs for Children, Santiago, Chile; Walentyna Balwierz, Polish Pediatric Leukemia Lymphoma Study Group, Krakow, Poland; Alexander Popa, Russian Acute Myeloid Leukemia Study Group, Moscow, Russia; and Jeffrey Rubnitz and

    Papers in Europe PMC
  3. 03
    Auvrignon A1 paper · 2015

    Kim Klein, Gertjan Kaspers, Jacqueline Cloos, and Mathilda Bongers, Vrije Universiteit University Medical Center Amsterdam; Gertjan Kaspers and Ardine Reedijk, Dutch Childhood Oncology Group, The Hague; H. Berna Beverloo, Erasmus Medical Center, Rotterdam, the Netherlands; Christine J. Harrison, Newcastle University, Newcastle upon Tyne; Brenda Gibson, Royal Hospital for Sick Children, Glasgow, United Kingdom; Andrea Pession, Italian Association of Pediatric Hematology Oncology, Bologna, Italy; Dirk Reinhardt, Berlin-Frankfurt-Münster (BFM) -Germany, Essen; Martin Zimmerman and Ursula Creutzig, BFM-Germany, Hannover, Germany; Michael Dworzak, BFM-Austria, Vienna, Austria; Todd Alonzo, Donna Johnston, and Betsy Hirsch, Children's Oncology Group (COG) including Children's Cancer Group and Pediatric Oncology Group, Philadelphia (COG chair's office), PA; Michal Zapotocky, Czech Paediatric Hematology Working Group, Prague, Czech Republic; Barbara De Moerloose, European Organisation for Research and Treatment of Cancer-Children's Leukemia Group, Brussels, Belgium; Alcira Flynn, Grupo Argentino de Tratamiento de la Leucemia Aguda, Buenos Aires, Argentina; Vincent Lee, Hong Kong Paediatric Haematology and Oncology Study Group, Hong Kong, Special Administrative Region, People's Republic of China; Takashi Taga, Japanese Pediatric Leukemia/Lymphoma Study Group, Otsu; Akio Tawa, Japanese Pediatric Leukemia/Lymphoma Study Group, Osaka, Japan; Anne Auvrignon, French Leucémie Aiguë Myéloblastique Enfant Cooperative Group, Paris, France; Bernward Zeller, Nordic Society of Paediatric Haematology and Oncology, Oslo, Norway; Erik Forestier, Nordic Society of Paediatric Haematology and Oncology, Umeå, Sweden; Carmen Salgado, The National Program for Antineoplastic Drugs for Children, Santiago, Chile; Walentyna Balwierz, Polish Pediatric Leukemia Lymphoma Study Group, Krakow, Poland; Alexander Popa, Russian Acute Myeloid Leukemia Study Group, Moscow, Russia; and Jeffrey Rubnitz and

    Papers in Europe PMC
  4. 04
    Balwierz W1 paper · 2015

    Kim Klein, Gertjan Kaspers, Jacqueline Cloos, and Mathilda Bongers, Vrije Universiteit University Medical Center Amsterdam; Gertjan Kaspers and Ardine Reedijk, Dutch Childhood Oncology Group, The Hague; H. Berna Beverloo, Erasmus Medical Center, Rotterdam, the Netherlands; Christine J. Harrison, Newcastle University, Newcastle upon Tyne; Brenda Gibson, Royal Hospital for Sick Children, Glasgow, United Kingdom; Andrea Pession, Italian Association of Pediatric Hematology Oncology, Bologna, Italy; Dirk Reinhardt, Berlin-Frankfurt-Münster (BFM) -Germany, Essen; Martin Zimmerman and Ursula Creutzig, BFM-Germany, Hannover, Germany; Michael Dworzak, BFM-Austria, Vienna, Austria; Todd Alonzo, Donna Johnston, and Betsy Hirsch, Children's Oncology Group (COG) including Children's Cancer Group and Pediatric Oncology Group, Philadelphia (COG chair's office), PA; Michal Zapotocky, Czech Paediatric Hematology Working Group, Prague, Czech Republic; Barbara De Moerloose, European Organisation for Research and Treatment of Cancer-Children's Leukemia Group, Brussels, Belgium; Alcira Flynn, Grupo Argentino de Tratamiento de la Leucemia Aguda, Buenos Aires, Argentina; Vincent Lee, Hong Kong Paediatric Haematology and Oncology Study Group, Hong Kong, Special Administrative Region, People's Republic of China; Takashi Taga, Japanese Pediatric Leukemia/Lymphoma Study Group, Otsu; Akio Tawa, Japanese Pediatric Leukemia/Lymphoma Study Group, Osaka, Japan; Anne Auvrignon, French Leucémie Aiguë Myéloblastique Enfant Cooperative Group, Paris, France; Bernward Zeller, Nordic Society of Paediatric Haematology and Oncology, Oslo, Norway; Erik Forestier, Nordic Society of Paediatric Haematology and Oncology, Umeå, Sweden; Carmen Salgado, The National Program for Antineoplastic Drugs for Children, Santiago, Chile; Walentyna Balwierz, Polish Pediatric Leukemia Lymphoma Study Group, Krakow, Poland; Alexander Popa, Russian Acute Myeloid Leukemia Study Group, Moscow, Russia; and Jeffrey Rubnitz and

    Papers in Europe PMC
  5. 05
    Bauters F1 paper · 2005
    Papers in Europe PMC
  6. 06
    Berg T1 paper · 2018

    Department of Medicine II-Hematology/Oncology, Goethe University, Frankfurt/Main, Germany.

    Papers in Europe PMC
  7. 07
    Bergevoet SM1 paper · 2018

    Department of Laboratory Medicine, Laboratory of Hematology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.

    Papers in Europe PMC
  8. 08
    Beverloo HB1 paper · 2015

    Kim Klein, Gertjan Kaspers, Jacqueline Cloos, and Mathilda Bongers, Vrije Universiteit University Medical Center Amsterdam; Gertjan Kaspers and Ardine Reedijk, Dutch Childhood Oncology Group, The Hague; H. Berna Beverloo, Erasmus Medical Center, Rotterdam, the Netherlands; Christine J. Harrison, Newcastle University, Newcastle upon Tyne; Brenda Gibson, Royal Hospital for Sick Children, Glasgow, United Kingdom; Andrea Pession, Italian Association of Pediatric Hematology Oncology, Bologna, Italy; Dirk Reinhardt, Berlin-Frankfurt-Münster (BFM) -Germany, Essen; Martin Zimmerman and Ursula Creutzig, BFM-Germany, Hannover, Germany; Michael Dworzak, BFM-Austria, Vienna, Austria; Todd Alonzo, Donna Johnston, and Betsy Hirsch, Children's Oncology Group (COG) including Children's Cancer Group and Pediatric Oncology Group, Philadelphia (COG chair's office), PA; Michal Zapotocky, Czech Paediatric Hematology Working Group, Prague, Czech Republic; Barbara De Moerloose, European Organisation for Research and Treatment of Cancer-Children's Leukemia Group, Brussels, Belgium; Alcira Flynn, Grupo Argentino de Tratamiento de la Leucemia Aguda, Buenos Aires, Argentina; Vincent Lee, Hong Kong Paediatric Haematology and Oncology Study Group, Hong Kong, Special Administrative Region, People's Republic of China; Takashi Taga, Japanese Pediatric Leukemia/Lymphoma Study Group, Otsu; Akio Tawa, Japanese Pediatric Leukemia/Lymphoma Study Group, Osaka, Japan; Anne Auvrignon, French Leucémie Aiguë Myéloblastique Enfant Cooperative Group, Paris, France; Bernward Zeller, Nordic Society of Paediatric Haematology and Oncology, Oslo, Norway; Erik Forestier, Nordic Society of Paediatric Haematology and Oncology, Umeå, Sweden; Carmen Salgado, The National Program for Antineoplastic Drugs for Children, Santiago, Chile; Walentyna Balwierz, Polish Pediatric Leukemia Lymphoma Study Group, Krakow, Poland; Alexander Popa, Russian Acute Myeloid Leukemia Study Group, Moscow, Russia; and Jeffrey Rubnitz and

    Papers in Europe PMC
  9. 09
    Bongers M1 paper · 2015

    Kim Klein, Gertjan Kaspers, Jacqueline Cloos, and Mathilda Bongers, Vrije Universiteit University Medical Center Amsterdam; Gertjan Kaspers and Ardine Reedijk, Dutch Childhood Oncology Group, The Hague; H. Berna Beverloo, Erasmus Medical Center, Rotterdam, the Netherlands; Christine J. Harrison, Newcastle University, Newcastle upon Tyne; Brenda Gibson, Royal Hospital for Sick Children, Glasgow, United Kingdom; Andrea Pession, Italian Association of Pediatric Hematology Oncology, Bologna, Italy; Dirk Reinhardt, Berlin-Frankfurt-Münster (BFM) -Germany, Essen; Martin Zimmerman and Ursula Creutzig, BFM-Germany, Hannover, Germany; Michael Dworzak, BFM-Austria, Vienna, Austria; Todd Alonzo, Donna Johnston, and Betsy Hirsch, Children's Oncology Group (COG) including Children's Cancer Group and Pediatric Oncology Group, Philadelphia (COG chair's office), PA; Michal Zapotocky, Czech Paediatric Hematology Working Group, Prague, Czech Republic; Barbara De Moerloose, European Organisation for Research and Treatment of Cancer-Children's Leukemia Group, Brussels, Belgium; Alcira Flynn, Grupo Argentino de Tratamiento de la Leucemia Aguda, Buenos Aires, Argentina; Vincent Lee, Hong Kong Paediatric Haematology and Oncology Study Group, Hong Kong, Special Administrative Region, People's Republic of China; Takashi Taga, Japanese Pediatric Leukemia/Lymphoma Study Group, Otsu; Akio Tawa, Japanese Pediatric Leukemia/Lymphoma Study Group, Osaka, Japan; Anne Auvrignon, French Leucémie Aiguë Myéloblastique Enfant Cooperative Group, Paris, France; Bernward Zeller, Nordic Society of Paediatric Haematology and Oncology, Oslo, Norway; Erik Forestier, Nordic Society of Paediatric Haematology and Oncology, Umeå, Sweden; Carmen Salgado, The National Program for Antineoplastic Drugs for Children, Santiago, Chile; Walentyna Balwierz, Polish Pediatric Leukemia Lymphoma Study Group, Krakow, Poland; Alexander Popa, Russian Acute Myeloid Leukemia Study Group, Moscow, Russia; and Jeffrey Rubnitz and

    Papers in Europe PMC
  10. 10
    Botezatu L1 paper · 2018

    Department of Hematology, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Germany.

    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 t(8;21)(q22;q22) translocation" OR "AML with t(8;21)(q22;q22) translocation"

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 t(8;21)(q22;q22) translocation" OR "AML with t(8;21)(q22;q22) translocation"

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 2026-07-27T07:22:38.979Z