ORPHA:585867
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Also known as: AML with BCR-ABL1 · AML with t(9;22)(q34.1;q11.2)
Publications
160
74.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,292
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0035112
- UMLS:C4329268
- NCIT:C129785
Additional Mondo synonyms (2)
acute myeloid leukaemia with t(9;22)(q34.1;q11.2) · acute myeloid leukemia with t(9;22)(q34.1;q11.2)
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
160 matched papers (151 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 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?
160
160 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.
160 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).
151 in the last 10 years · high confidence · 74.1th percentile (publications denominator)
Phrase hits: 160 · MeSH hits: 0
Who's working on it?
1,292
Distinct author names in 160 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.
- 01Döhner H6 papers · 2023
Ulm University Hospital, Ulm, Germany. hartmut.doehner@uniklinik-ulm.de.
Papers in Europe PMC - 02Chen X5 papers · 2025
Department of Hematology and Rheumatology, The Affiliated Hospital of Putian University, Putian, Fujian, China.
Papers in Europe PMC - 03
- 04
- 05Döhner K4 papers · 2023
Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany; and.
Papers in Europe PMC - 06Dombret H4 papers · 2022
Hôpital Saint Louis, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris, France.
Papers in Europe PMC - 07Hu S4 papers · 2025
Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, Houston, Texas, USA.
Papers in Europe PMC - 08Kanagal-Shamanna R4 papers · 2025
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Papers in Europe PMC - 09Larson RA4 papers · 2025
Department of Medicine, University of Chicago, Chicago, IL.
Papers in Europe PMC - 10Liu Y4 papers · 2026
Jiangxi Health Commission Key Laboratory of Leukemia, Department of Hematology, The Affiliated Ganzhou Hospital (Ganzhou People's Hospital) of Nanchang University, Ganzhou, Jiangxi, China.
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
- NCT00801489·RECRUITING·Fludarabine Phosphate, Cytarabine, Filgrastim-sndz, Gemtuzumab Ozogamicin, and Idarubicin Hydrochloride in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome
Conditions: Acute Myeloid Leukemia With Inv(16)(p13.1q22); CBFB-MYH11 · Acute Myeloid Leukemia With t(16;16)(p13.1;q22); CBFB-MYH11 · Acute Myeloid Leukemia With t(8;21); (q22; q22.1); RUNX1-RUNX1T1 · de Novo Myelodysplastic Syndrome·Matched via name phrase
- NCT02727803·RECRUITING·Personalized NK Cell Therapy in CBT
Conditions: Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive · Acute Biphenotypic Leukemia · Acute Lymphoblastic Leukemia · Acute Lymphoblastic Leukemia in Remission·Matched via name phrase
- NCT06345365·RECRUITING·MA+AZA Regimen for the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
Conditions: Acute Myeloid Leukaemia·Matched via name phrase
- NCT07198867·RECRUITING·A Study of A-CAR028 Treatment in Subjects With Relapsed or Refractory Acute Myeloid Leukemia
Conditions: Acute Myeloid Leukemia (AML) · CAR-T Cell Therapy·Matched via name phrase
- NCT03300492·RECRUITING·Expanded Natural Killer Cells Following Haploidentical HSCT for AML/MDS
Conditions: Acute Myeloid Leukemia · Myelodysplastic Syndromes·Matched via name phrase
- NCT06401603·RECRUITING·A Phase I Study of Decitabine, Lisaftoclax, and Olverembatinib in Patients With Advanced Chronic Myeloid Leukemia and Philadelphia Chromosome-Positive Acute Myeloid Leukemia
Conditions: Advanced Chronic Myeloid Leukemia · Philadelphia Chromosome-Positive Acute Myeloid Leukemia·Matched via name phrase
- NCT07356154·RECRUITING·A Study of Revumenib and Mezigdomide in People With Leukemia
Conditions: Leukemia · Acute Leukemia · Relapse Leukemia · Refractory Leukemia·Matched via name phrase
- NCT07521124·NOT YET RECRUITING·ABC Maintenance Therapy for AML
Conditions: Acute Myeloid Leukemia (AML) in Remission·Matched via name phrase
- NCT06013423·RECRUITING·Cord Blood Transplant, Cyclophosphamide, Fludarabine, and Total-Body Irradiation in Treating Patients With High-Risk Hematologic Diseases
Conditions: Acute Leukemia of Ambiguous Lineage · Acute Lymphoblastic Leukemia · Acute Myeloid Leukemia · Blastic Plasmacytoid Dendritic Cell Neoplasm·Matched via name phrase
- NCT05949125·RECRUITING·Phase 1 Study of Allo-RevCAR01-T-CD123 in Patients With Selected CD123 Positive Hematologic Malignancies
Conditions: Acute Myeloid Leukemia, in Relapse · Acute Myeloid Leukemia Refractory·Matched via name phrase
- NCT07025824·NOT YET RECRUITING·Evaluation of Treosulfan Versus Melphalan Conditioning Followed by PTCy in Patients With AML and MDS Undergoing Allogeneic Transplantation
Conditions: AML - Acute Myeloid Leukemia · MDS (Myelodysplastic Syndrome)·Matched via name phrase
- NCT05991908·RECRUITING·Randomized Study of Conditioning of Fludarabine Combined With Single or Dual Alkylating Agents in Myeloid Malignancies
Conditions: Acute Myeloid Leukemia · Myelodysplastic Syndromes·Matched via name phrase
- NCT04869683·RECRUITING·Biocollection in MyeloDysplastic Syndrome (P-MDS)
Conditions: Myelodysplastic Syndromes · Myelodysplastic Anemia · Myelodysplastic Syndrome With Isolated Del(5Q) · Myelodysplastic Syndrome With Ring Sideroblasts·Matched via name phrase
- NCT07082452·NOT YET RECRUITING·A Multicenter Trial Evaluating Efficacy and Safety of A Reduced Venetoclax Exposure To Seven Days Versus Standard Continuous Venetoclax Exposure Combined With Azacitidine in Treatment Naïve Subjects With Acute Myeloid Leukemia Who Are Ineligible for Intensive Induction
Conditions: Leukemia, B-Cell, Chronic · Leukemia·Matched via name phrase
- NCT06297941·RECRUITING·Study of REM-422 in Patients With AML or Higher Risk MDS
Conditions: Myelodysplastic Syndromes · Higher Risk Myelodysplastic Syndromes · Acute Myeloid Leukemia · Acute Myeloid Leukemia Refractory·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.
"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)" OR "AML with BCR-ABL1" OR "AML with t(9;22)(q34.1;q11.2)" OR "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)" OR "AML with BCR-ABL1" OR "AML with t(9;22)(q34.1;q11.2)" OR "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)"
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 2026-07-27T18:43:43.234Z