Myelodysplastic syndrome with excess blasts

Summary

Myelodysplastic syndrome with excess blasts (MONDO:0019454) is a disease and 56 clinical trials. Top therapeutic interventions include fludarabine phosphate, clofarabine, and cyclophosphamide anhydrous. A subtype of myelodysplastic syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 22
• Clinical trials: 56

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.15	Europe	Validated

Signs & symptoms

Clinical features (HPO)

22 HPO clinical features (Orphanet curated; top 22 by frequency):

HPO ID	Term	Frequency
HP:0010972	Anemia of inadequate production	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0001017	Anemic pallor	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0001962	Palpitations	Frequent (30-79%)
HP:0002875	Exertional dyspnea	Frequent (30-79%)
HP:0000573	Retinal hemorrhage	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001892	Abnormal bleeding	Occasional (5-29%)
HP:0001974	Leukocytosis	Occasional (5-29%)
HP:0002653	Bone pain	Occasional (5-29%)
HP:0004808	Acute myeloid leukemia	Occasional (5-29%)
HP:0005528	Bone marrow hypocellularity	Occasional (5-29%)
HP:0005561	Abnormality of bone marrow cell morphology	Occasional (5-29%)
HP:0010741	Pedal edema	Occasional (5-29%)
HP:0010876	Abnormal circulating protein level	Occasional (5-29%)
HP:0012116	Abnormal albumin level	Occasional (5-29%)
HP:0012136	Dysplastic granulopoesis	Occasional (5-29%)
HP:0012148	Multiple lineage myelodysplasia	Occasional (5-29%)
HP:0012150	Single lineage myelodysplasia	Occasional (5-29%)
HP:0025065	Abnormal mean corpuscular volume	Occasional (5-29%)
HP:0031035	Chronic infection	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	myelodysplastic syndrome with excess blasts
Mondo ID	MONDO:0019454
EFO	EFO:0003811
MeSH	D000754
Orphanet	86839
NCIT	C7506
SNOMED CT	398623004
UMLS	C0002894
MedGen	8066
GARD	0019070
MedDRA	10038270
Is cancer (heuristic)	no

Also known as: MDS-EB · myelodysplastic syndrome with Excess blasts · RAEB · refractory Anaemia with an Excess of blasts · refractory Anaemia with Excess blasts · refractory Anemia with an Excess of blasts · refractory Anemia with Excess blasts

Disease family

This is a subtype of myelodysplastic syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › myeloid hemopathy › myelodysplastic syndrome › myelodysplastic syndrome with excess blasts

Related subtypes (7): myelodysplastic syndrome with single lineage dysplasia, myelodysplastic syndrome associated with isolated del(5q), refractory anemia with excess blasts in transformation, myelodysplastic syndrome with ring sideroblasts, myelodysplastic syndrome with multilineage dysplasia, familial monosomy 7 syndrome, childhood myelodysplastic syndrome

Subtypes (2): myelodysplastic syndrome with excess blasts-1, myelodysplastic syndrome with excess blasts-2

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

2 approved, 13 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Azacitidine	Approved (phase 4)
Decitabine	Approved (phase 4)
Aldesleukin	Phase 3 (in late-stage trials)
Asparaginase	Phase 3 (in late-stage trials)
Busulfan	Phase 3 (in late-stage trials)
Cytarabine	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Fludarabine Phosphate	Phase 3 (in late-stage trials)
Hydrocortisone	Phase 3 (in late-stage trials)
Idarubicin	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Rigosertib	Phase 3 (in late-stage trials)
Thioguanine	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 56.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	21
PHASE1	16
PHASE1/PHASE2	10
PHASE3	5
Not specified	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00002798	PHASE3	COMPLETED	Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome
NCT00093470	PHASE3	COMPLETED	Tipifarnib in Treating Patients With Acute Myeloid Leukemia in Remission
NCT01241500	PHASE3	COMPLETED	Randomized Study of ON 01910.Na in Refractory Myelodysplastic Syndrome Patients With Excess Blasts
NCT01928537	PHASE3	COMPLETED	Efficacy and Safety of IV Rigosertib in MDS Patients With Excess Blasts Progressing After Azacitidine or Decitabine
NCT02562443	PHASE3	TERMINATED	Controlled Study of Rigosertib Versus Physician’s Choice of Treatment in MDS Patients After Failure of an HMA
NCT04216355	PHASE2/PHASE3	UNKNOWN	Low-dose AZA Combined With Short Term CAG Derived Regimen as a Bridging Treatment in Patients With Advanced MDS Prior to Allo-HSCT
NCT00392353	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia
NCT00801489	PHASE2	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
NCT01522976	PHASE2	ACTIVE_NOT_RECRUITING	Azacitidine With or Without Lenalidomide or Vorinostat in Treating Patients With Higher-Risk Myelodysplastic Syndromes or Chronic Myelomonocytic Leukemia
NCT02727803	PHASE2	RECRUITING	Personalized NK Cell Therapy in CBT
NCT03128034	PHASE1/PHASE2	RECRUITING	211^At-BC8-B10 Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Myelodysplastic Syndrome, or Mixed-Phenotype Acute Leukemia
NCT03383575	PHASE2	RECRUITING	Azacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome
NCT03399773	PHASE2	ACTIVE_NOT_RECRUITING	Infusion of Expanded Cord Blood Cells in Addition to Single Cord Blood Transplant in Treating Patients With Acute Leukemia, Chronic Myeloid Leukemia, or Myelodysplastic Syndromes
NCT03670966	PHASE1/PHASE2	RECRUITING	211At-BC8-B10 Followed by Donor Stem Cell Transplant in Treating Patients With Relapsed or Refractory High-Risk Acute Leukemia or Myelodysplastic Syndrome
NCT05600894	PHASE2	ACTIVE_NOT_RECRUITING	Venetoclax in Combination With ASTX727 for the Treatment of Chronic Myelomonocytic Leukemia and Other Myelodysplastic Syndrome/Myeloproliferative Neoplasm
NCT00004918	PHASE1/PHASE2	COMPLETED	Vaccine Therapy Plus Immune Adjuvant in Treating Patients With Chronic Myeloid Leukemia, Acute Myeloid Leukemia, or Myelodysplastic Syndrome
NCT00005942	PHASE1/PHASE2	COMPLETED	Liposomal Daunorubicin and SU5416 in Treating Patients With Hematologic Cancer That Has Not Responded to Initial Therapy
NCT00015990	PHASE2	COMPLETED	Thalidomide in Treating Patients With Myelodysplastic Syndrome
NCT00052520	PHASE1/PHASE2	COMPLETED	Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation
NCT00084916	PHASE2	COMPLETED	CCI-779 in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Myelodysplastic Syndromes, or Chronic Myelogenous Leukemia in Blastic Phase
NCT00096122	PHASE1/PHASE2	COMPLETED	Idarubicin, Cytarabine, and Tipifarnib in Treating Patients With Newly Diagnosed Myelodysplastic Syndromes or Acute Myeloid Leukemia
NCT00119366	PHASE2	TERMINATED	Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Total Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients With Advanced Acute Myeloid Leukemia or Myelodysplastic Syndrome
NCT00357565	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in the Treatment of Infant Leukemia
NCT00397813	PHASE2	COMPLETED	Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders
NCT00462605	PHASE2	COMPLETED	MS-275 and GM-CSF in Treating Patients With Myelodysplastic Syndrome and/or Relapsed or Refractory Acute Myeloid Leukemia or Acute Lymphocytic Leukemia
NCT00540995	PHASE1/PHASE2	TERMINATED	Busulfan, Etoposide, and Intensity-Modulated Radiation Therapy Followed By Donor Stem Cell Transplant in Treating Patients With Advanced Myeloid Cancer
NCT01101880	PHASE2	COMPLETED	Clofarabine, Cytarabine, and Filgrastim in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia, Advanced Myelodysplastic Syndrome, and/or Advanced Myeloproliferative Neoplasm
NCT01165996	PHASE1/PHASE2	COMPLETED	Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome
NCT01168219	PHASE2	COMPLETED	Busulfan, Fludarabine Phosphate, and Anti-Thymocyte Globulin Followed By Donor Stem Cell Transplant and Azacitidine in Treating Patients With High-Risk Myelodysplastic Syndrome and Older Patients With Acute Myeloid Leukemia
NCT01175785	PHASE2	COMPLETED	Infusion of Off-the-Shelf Expanded Cord Blood Cells to Augment Cord Blood Transplant in Patients With Hematologic Malignancies
NCT01607645	PHASE2	TERMINATED	Decitabine Followed by Idarubicin and Cytarabine in Treating Patients With Relapsed or Refractory AML and MDS
NCT01789255	PHASE2	COMPLETED	Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies
NCT02220985	PHASE2	COMPLETED	Selective Depletion of CD45RA+ T Cells From Allogeneic Peripheral Blood Stem Cell Grafts From HLA-Matched Related and Unrelated Donors in Preventing GVHD
NCT02566304	PHASE2	COMPLETED	Reduced Intensity Chemotherapy and Radiation Therapy Before Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT03096782	PHASE2	COMPLETED	Umbilical Cord Blood Transplant With Added Sugar and Chemotherapy and Radiation Therapy in Treating Patients With Leukemia or Lymphoma
NCT04083170	PHASE2	TERMINATED	Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers
NCT04599426	PHASE1/PHASE2	UNKNOWN	Allogenic NK Cell Transfusion Azacitidine MDS-EB
NCT06372717	PHASE1	RECRUITING	A Study to Investigate APL-4098 Alone and in Combination in Adults With AML or MDS
NCT00005064	PHASE1	COMPLETED	PS-341 in Treating Patients With Refractory or Relapsed Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Chronic Myeloid Leukemia in Blast Phase, or Myelodysplastic Syndrome
NCT00005845	PHASE1	COMPLETED	Tipifarnib in Treating Patients With Myelodysplastic Syndromes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FLUDARABINE PHOSPHATE	4	20
CLOFARABINE	4	3
CYCLOPHOSPHAMIDE ANHYDROUS	4	3
AZACITIDINE	4	2
DECITABINE	4	2
IDARUBICIN	4	2
VORINOSTAT	4	2
ALDESLEUKIN	4	1
ASPARAGINASE	4	1
BUSULFAN	4	1
CEDAZURIDINE	4	1
CYTARABINE	4	1
DAUNORUBICIN HYDROCHLORIDE	4	1
ENASIDENIB	4	1
ETOPOSIDE	4	1
FILGRASTIM	4	1
GEMTUZUMAB OZOGAMICIN	4	1
HYDROCORTISONE	4	1
PRAVASTATIN SODIUM	4	1
SARGRAMOSTIM	4	1
TEMSIROLIMUS	4	1
THIOGUANINE	4	1
RIGOSERTIB	3	5
ALVOCIDIB	3	3
TIPIFARNIB	3	3
BECATECARIN	3	1
ENTINOSTAT	3	1
INCOMPLETE FREUND’S ADJUVANT	3	1
PR1 LEUKEMIA PEPTIDE VACCINE	3	1
SEMAXANIB	3	1