ORPHA:102381
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Also known as: AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
0/6
Stages with a signal
Clinical definition (Orphanet)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015165
- UMLS:C4707659
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.”
0/6 stages with a signal
Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteratureNot checked
Query returned nothing — not evidence of absence Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot checked
Broken query — trial zero not trusted
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence
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
Not reviewed·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
Not reviewed·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)
Not reviewed·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
Not reviewed·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
Not reviewed·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
Not reviewed·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
Not reviewed·Conditions: Leukemia · Acute Leukemia · Relapse Leukemia · Refractory Leukemia·Matched via name phrase
- NCT07521124·NOT YET RECRUITING·ABC Maintenance Therapy for AML
Not reviewed·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
Not reviewed·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
Not reviewed·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
Not reviewed·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
Not reviewed·Conditions: Acute Myeloid Leukemia · Myelodysplastic Syndromes·Matched via name phrase
- NCT04869683·RECRUITING·Biocollection in MyeloDysplastic Syndrome (P-MDS)
Not reviewed·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
Not reviewed·Conditions: Leukemia, B-Cell, Chronic · Leukemia·Matched via name phrase
- NCT06297941·RECRUITING·Study of REM-422 in Patients With AML or Higher Risk MDS
Not reviewed·Conditions: Myelodysplastic Syndromes · Higher Risk Myelodysplastic Syndromes · Acute Myeloid Leukemia · Acute Myeloid Leukemia Refractory·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor — check Associations / patient organisations on that page.
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 and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" OR "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" OR "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
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: broken — strategies attempted: phrase; with hits: none
Parent literature probe: acute myeloid leukemia (MONDO:0018874) — 129389 hits
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
- Zero publications but parent term acute myeloid leukemia has 129389 — literature likely indexed under a broader name
Ingested 2026-07-27T07:22:29.839Z · excluded from neglect metrics