Myeloid neoplasm
diseaseOn this page
Also known as myeloid malignancymyeloid tumormyeloid tumour
Summary
Myeloid neoplasm (MONDO:0005170) is a cancer with 5 cohort genes (3 GWAS associations across 2 studies; 5 CIViC-evidence somatic drivers; 1 ClinVar predisposition record) and 63 clinical trials. Molecularly, ZMYM2::FGFR1 Fusion OR BCR::FGFR1 Fusion OR CEP43::FGFR1 Fusion OR TRIM24::FGFR1 Fusion OR FGFR1 Translocation confers sensitivity to Pemigatinib in Myeloid Neoplasm (CIViC Level A); 5 further subtype–drug associations are mapped below. Top therapeutic interventions include mitoxantrone, cladribine, and busulfan.
At a glance
- Classification: Cancer
- Cohort genes: 5
- GWAS associations: 3
- ClinVar variants: 1
- Clinical trials: 63
- Precision-medicine evidence (CIViC): 6 subtype–drug associations
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | myeloid neoplasm |
| Mondo ID | MONDO:0005170 |
| EFO | EFO:0002427 |
| DOID | DOID:0070004 |
| NCIT | C9290 |
| UMLS | C2939461 |
| MedGen | 445430 |
| GARD | 0024160 |
| Is cancer (heuristic) | yes |
Also known as: myeloid malignancy · myeloid neoplasm · myeloid tumor · myeloid tumour
Data availability: 1 ClinVar variant · 3 GWAS associations (2 studies).
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › myeloid neoplasm
Related subtypes (7): central nervous system hematopoietic neoplasm, refractory hematologic cancer, leukemia, lymphoid neoplasm, histiocytic and dendritic cell neoplasm, myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2, myelodysplastic syndrome with excess blasts
Subtypes (4): mast cell neoplasm, plasma cell myeloma, CD4+/CD56+ hematodermic neoplasm, myeloproliferative neoplasm
Genetics & variants
GWAS landscape
3 GWAS associations across 2 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr17:76736877 | 6e-37 | T | 126.89 | |
| chr20:32434638 | 1e-18 | AG | 25.91 | |
| chr9:5073770 | 2e-18 | T | 22.99 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90079643 | Backman JD | 2021 | 572 | 387,341 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083629 | Backman JD | 2021 | 572 | 387,341 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 3 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr17:76736877 | 6e-37 | Tier 4: intronic/intergenic | ||||||
| chr20:32434638 | 1e-18 | Tier 4: intronic/intergenic | ||||||
| chr9:5073770 | 2e-18 | Tier 4: intronic/intergenic |
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1711135 | t(13;14)(q12.2;q32.12) | TRIP11 | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 55 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| SRSF2 | Act | AML | CIViC #5210 |
| TP53 | LoF | ACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WT | CIViC #45 |
| FGFR1 | Act | BLCA,GBM,OVT,PANCREAS,PAST,PGNG,WDTC | CIViC #1885 |
| FGFR3 | Act | BLADDER,BLCA,HNSC,LUSC,PCM,PLMESO,UTUC | CIViC #23 |
| TRIP11 | LoF | BLCA |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SRSF2 | Orphanet:98823 | Chronic myelomonocytic leukemia |
| SRSF2 | Orphanet:98849 | Systemic mastocytosis with associated hematologic neoplasm |
| SRSF2 | Orphanet:98850 | Aggressive systemic mastocytosis |
| TP53 | Orphanet:1333 | Familial pancreatic carcinoma |
| TP53 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| TP53 | Orphanet:1501 | Adrenocortical carcinoma |
| TP53 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TP53 | Orphanet:251576 | Gliosarcoma |
| TP53 | Orphanet:251579 | Giant cell glioblastoma |
| TP53 | Orphanet:251899 | Choroid plexus carcinoma |
| TP53 | Orphanet:2807 | Papilloma of choroid plexus |
| TP53 | Orphanet:293199 | Pleomorphic rhabdomyosarcoma |
| TP53 | Orphanet:3318 | Essential thrombocythemia |
| TP53 | Orphanet:524 | Li-Fraumeni syndrome |
| TP53 | Orphanet:52688 | Myelodysplastic syndrome |
| TP53 | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| TP53 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| TP53 | Orphanet:668 | Osteosarcoma |
| TP53 | Orphanet:67038 | B-cell chronic lymphocytic leukemia |
| TP53 | Orphanet:70573 | Small cell lung cancer |
| TP53 | Orphanet:96253 | Cushing disease |
| TP53 | Orphanet:99756 | Alveolar rhabdomyosarcoma |
| TP53 | Orphanet:99757 | Embryonal rhabdomyosarcoma |
| FGFR1 | Orphanet:168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
| FGFR1 | Orphanet:2117 | Hartsfield syndrome |
| FGFR1 | Orphanet:220386 | Semilobar holoprosencephaly |
| FGFR1 | Orphanet:2396 | Encephalocraniocutaneous lipomatosis |
| FGFR1 | Orphanet:251576 | Gliosarcoma |
| FGFR1 | Orphanet:251579 | Giant cell glioblastoma |
| FGFR1 | Orphanet:251615 | Pilomyxoid astrocytoma |
| FGFR1 | Orphanet:2645 | Osteoglosphonic dysplasia |
| FGFR1 | Orphanet:280200 | Microform holoprosencephaly |
| FGFR1 | Orphanet:314950 | Primary hypereosinophilic syndrome |
| FGFR1 | Orphanet:3157 | Septo-optic dysplasia spectrum |
| FGFR1 | Orphanet:3366 | Non-syndromic metopic craniosynostosis |
| FGFR1 | Orphanet:432 | Normosmic congenital hypogonadotropic hypogonadism |
| FGFR1 | Orphanet:478 | Kallmann syndrome |
| FGFR1 | Orphanet:93258 | Pfeiffer syndrome type 1 |
| FGFR1 | Orphanet:93924 | Lobar holoprosencephaly |
| FGFR1 | Orphanet:99798 | Oligodontia |
| FGFR3 | Orphanet:15 | Achondroplasia |
| FGFR3 | Orphanet:1860 | Thanatophoric dysplasia type 1 |
| FGFR3 | Orphanet:2363 | Lacrimoauriculodentodigital syndrome |
| FGFR3 | Orphanet:251576 | Gliosarcoma |
| FGFR3 | Orphanet:251579 | Giant cell glioblastoma |
| FGFR3 | Orphanet:35099 | Non-syndromic bicoronal craniosynostosis |
| FGFR3 | Orphanet:429 | Hypochondroplasia |
| FGFR3 | Orphanet:53271 | Muenke syndrome |
| FGFR3 | Orphanet:794 | Saethre-Chotzen syndrome |
| FGFR3 | Orphanet:85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
Cohort genes → proteins
5 cohort genes, 5 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| civic_only | 4 |
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SRSF2 | HGNC:10783 | ENSG00000161547 | Q01130 | Serine/arginine-rich splicing factor 2 | civic_evidence |
| TP53 | HGNC:11998 | ENSG00000141510 | P04637 | Cellular tumor antigen p53 | civic_evidence |
| FGFR1 | HGNC:3688 | ENSG00000077782 | P11362 | Fibroblast growth factor receptor 1 | civic_evidence |
| FGFR3 | HGNC:3690 | ENSG00000068078 | P22607 | Fibroblast growth factor receptor 3 | civic_evidence |
| TRIP11 | HGNC:12305 | ENSG00000100815 | Q15643 | Thyroid receptor-interacting protein 11 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SRSF2 | Serine/arginine-rich splicing factor 2 | Necessary for the splicing of pre-mRNA. |
| TP53 | Cellular tumor antigen p53 | Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence. |
| FGFR1 | Fibroblast growth factor receptor 1 | Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. |
| FGFR3 | Fibroblast growth factor receptor 3 | Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. |
| TRIP11 | Thyroid receptor-interacting protein 11 | Is a membrane tether required for vesicle tethering to Golgi. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.4
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Kinase | 2 | 11.1× | 0.036 |
| Transcription factor | 1 | 1.6× | 0.713 |
| Other/Unknown | 2 | 0.7× | 0.877 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SRSF2 | Other/Unknown | no | RRM_dom, RRM_euk-type, Nucleotide-bd_a/b_plait_sf | |
| TP53 | Transcription factor | no | p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn | |
| FGFR1 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2 |
| FGFR3 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2 |
| TRIP11 | Other/Unknown | no | GRIP_dom |
Expression context
Cohort genes with no expression data: 0.
5 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 5 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| tendon of biceps brachii | 2 |
| calcaneal tendon | 2 |
| embryo | 1 |
| tibia | 1 |
| ganglionic eminence | 1 |
| ventricular zone | 1 |
| buccal mucosa cell | 1 |
| stromal cell of endometrium | 1 |
| skin of hip | 1 |
| upper arm skin | 1 |
| upper leg skin | 1 |
| adrenal tissue | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SRSF2 | 295 | ubiquitous | marker | tibia, embryo, tendon of biceps brachii |
| TP53 | 223 | ubiquitous | marker | ventricular zone, ganglionic eminence, tendon of biceps brachii |
| FGFR1 | 292 | ubiquitous | marker | buccal mucosa cell, stromal cell of endometrium, calcaneal tendon |
| FGFR3 | 262 | broad | marker | upper leg skin, skin of hip, upper arm skin |
| TRIP11 | 270 | ubiquitous | marker | calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TP53 | 22,736 |
| FGFR1 | 5,693 |
| FGFR3 | 4,510 |
| SRSF2 | 3,311 |
| TRIP11 | 2,991 |
Structural data
PDB: 4 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TP53 | P04637 | 313 |
| FGFR1 | P11362 | 83 |
| FGFR3 | P22607 | 15 |
| SRSF2 | Q01130 | 4 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| TRIP11 | Q15643 | 66.78 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 95. Enrichment computed across 5 evidence-associated genes (5 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| t(4;14) translocations of FGFR3 | 1 | 2284.0× | 0.010 | FGFR3 |
| Signaling by FGFR3 fusions in cancer | 1 | 2284.0× | 0.010 | FGFR3 |
| Loss of function of TP53 in cancer due to loss of tetramerization ability | 1 | 2284.0× | 0.010 | TP53 |
| PI3K Cascade | 2 | 108.8× | 0.010 | FGFR1, FGFR3 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 2 | 50.8× | 0.011 | FGFR1, FGFR3 |
| Signaling by FGFR1 amplification mutants | 1 | 1142.0× | 0.012 | FGFR1 |
| Regulation of TP53 Expression | 1 | 1142.0× | 0.012 | TP53 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 2 | 38.7× | 0.012 | FGFR1, FGFR3 |
| FGFR1c and Klotho ligand binding and activation | 1 | 571.0× | 0.015 | FGFR1 |
| Transcriptional activation of cell cycle inhibitor p21 | 1 | 571.0× | 0.015 | TP53 |
| Signaling by plasma membrane FGFR1 fusions | 1 | 571.0× | 0.015 | FGFR1 |
| PIP3 activates AKT signaling | 2 | 26.7× | 0.017 | FGFR1, FGFR3 |
| Activation of NOXA and translocation to mitochondria | 1 | 380.7× | 0.018 | TP53 |
| RAF/MAP kinase cascade | 2 | 24.4× | 0.018 | FGFR1, FGFR3 |
| FGFR3b ligand binding and activation | 1 | 326.3× | 0.018 | FGFR3 |
| RUNX3 regulates CDKN1A transcription | 1 | 326.3× | 0.018 | TP53 |
| Epithelial-Mesenchymal Transition (EMT) during gastrulation | 1 | 285.5× | 0.019 | FGFR1 |
| FGFR1b ligand binding and activation | 1 | 253.8× | 0.019 | FGFR1 |
| PI5P Regulates TP53 Acetylation | 1 | 253.8× | 0.019 | TP53 |
| Activation of PUMA and translocation to mitochondria | 1 | 228.4× | 0.019 | TP53 |
| Signaling by activated point mutants of FGFR1 | 1 | 190.3× | 0.019 | FGFR1 |
| Signaling by activated point mutants of FGFR3 | 1 | 190.3× | 0.019 | FGFR3 |
| TP53 Regulates Transcription of Caspase Activators and Caspases | 1 | 190.3× | 0.019 | TP53 |
| TP53 Regulates Transcription of Death Receptors and Ligands | 1 | 190.3× | 0.019 | TP53 |
| FGFR3c ligand binding and activation | 1 | 175.7× | 0.019 | FGFR3 |
| Phospholipase C-mediated cascade; FGFR3 | 1 | 175.7× | 0.019 | FGFR3 |
| Urea cycle | 1 | 175.7× | 0.019 | TP53 |
| Regulation of TP53 Activity through Association with Co-factors | 1 | 163.1× | 0.019 | TP53 |
| FGFR1c ligand binding and activation | 1 | 152.3× | 0.019 | FGFR1 |
| TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain | 1 | 152.3× | 0.019 | TP53 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of phospholipase activity | 2 | 1348.2× | 1e-04 | FGFR1, FGFR3 |
| stem cell proliferation | 2 | 124.8× | 0.006 | TP53, FGFR1 |
| chondrocyte differentiation | 2 | 120.4× | 0.006 | FGFR1, FGFR3 |
| fibroblast growth factor receptor signaling pathway | 2 | 114.2× | 0.006 | FGFR1, FGFR3 |
| negative regulation of developmental growth | 1 | 3370.4× | 0.006 | FGFR3 |
| negative regulation of helicase activity | 1 | 3370.4× | 0.006 | TP53 |
| cellular response to actinomycin D | 1 | 3370.4× | 0.006 | TP53 |
| regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 1 | 3370.4× | 0.006 | TP53 |
| negative regulation of G1 to G0 transition | 1 | 3370.4× | 0.006 | TP53 |
| positive regulation of mitochondrial membrane permeability | 1 | 1685.2× | 0.006 | TP53 |
| vitamin D3 metabolic process | 1 | 1685.2× | 0.006 | FGFR1 |
| oligodendrocyte apoptotic process | 1 | 1685.2× | 0.006 | TP53 |
| fibroblast growth factor receptor apoptotic signaling pathway | 1 | 1685.2× | 0.006 | FGFR3 |
| positive regulation of mitotic cell cycle DNA replication | 1 | 1685.2× | 0.006 | FGFR1 |
| negative regulation of glucose catabolic process to lactate via pyruvate | 1 | 1685.2× | 0.006 | TP53 |
| negative regulation of pentose-phosphate shunt | 1 | 1685.2× | 0.006 | TP53 |
| positive regulation of parathyroid hormone secretion | 1 | 1685.2× | 0.006 | FGFR1 |
| regulation of extrinsic apoptotic signaling pathway in absence of ligand | 1 | 1685.2× | 0.006 | FGFR1 |
| regulation of phosphate transport | 1 | 1123.5× | 0.006 | FGFR1 |
| obsolete homolactic fermentation | 1 | 1123.5× | 0.006 | TP53 |
| fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development | 1 | 1123.5× | 0.006 | FGFR1 |
| regulation of lateral mesodermal cell fate specification | 1 | 1123.5× | 0.006 | FGFR1 |
| bone maturation | 1 | 1123.5× | 0.006 | FGFR3 |
| signal transduction by p53 class mediator | 1 | 1123.5× | 0.006 | TP53 |
| negative regulation of miRNA processing | 1 | 1123.5× | 0.006 | TP53 |
| intrinsic apoptotic signaling pathway in response to hypoxia | 1 | 1123.5× | 0.006 | TP53 |
| regulation of fibroblast apoptotic process | 1 | 1123.5× | 0.006 | TP53 |
| MAPK cascade | 2 | 61.3× | 0.006 | FGFR1, FGFR3 |
| skeletal system development | 2 | 50.3× | 0.006 | FGFR1, FGFR3 |
| T cell proliferation involved in immune response | 1 | 842.6× | 0.007 | TP53 |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 4 · Undrugged: 1
Druggability breadth: 4 of 5 evidence-associated genes (80%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| TP53 | NITROFURANTOIN |
| FGFR1 | PONATINIB |
| FGFR3 | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TP53 | 196 | 4 |
| FGFR1 | 93 | 4 |
| FGFR3 | 64 | 4 |
| SRSF2 | 1 | 2 |
| TRIP11 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| FGFR1 | 1,465 | Binding:1428, Functional:24, ADMET:13 |
| FGFR3 | 975 | Binding:948, Functional:18, ADMET:9 |
| TP53 | 869 | Binding:775, ADMET:83, Functional:10, Toxicity:1 |
| SRSF2 | 8 | Binding:8 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| FGFR1 | 2.7.10.1 | receptor protein-tyrosine kinase |
| FGFR3 | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| TP53 | 869 |
| FGFR1 | 1,465 |
| FGFR3 | 975 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TP53, FGFR1, FGFR3 |
| B | Phased (≥1) drug, not yet approved | 1 | SRSF2 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | TRIP11 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| TRIP11 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 63.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 22 |
| PHASE1 | 11 |
| PHASE1/PHASE2 | 10 |
| Not specified | 10 |
| PHASE3 | 6 |
| PHASE2/PHASE3 | 3 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03608059 | PHASE4 | COMPLETED | ATG/PTCy in Haplo-PBSCT Randomized Controlled,Multi-center |
| NCT07052422 | PHASE2/PHASE3 | NOT_YET_RECRUITING | VEN+DAC+Bu2Flu4 vs Bu2Flu5 Conditioning Regimen for Elderly Myeloid Malignancies Undergoing Allo-HSCT |
| NCT07396480 | PHASE3 | RECRUITING | Fludarabine Plus Melphalan Versus Addition of Venetoclax to Fludarabine/Melphalan Conditioning Regimen for Allogeneic Hematopoietic Stem Cell Transplantation in AML/MDS Patients Aged > 50 Years: a Multicenter, Randomized, Phase 3 Trial |
| NCT00866918 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Promyelocytic Leukemia |
| NCT01307579 | PHASE3 | COMPLETED | Caspofungin Versus Fluconazole in Preventing Invasive Fungal Infections (IFI) in Patients Undergoing Chemotherapy for Acute Myeloid Leukemia |
| NCT01366612 | PHASE3 | TERMINATED | Fludarabine and Busulfan vs. Fludarabine, Busulfan and Total Body Irradiation |
| NCT01371981 | PHASE3 | COMPLETED | Bortezomib and Sorafenib Tosylate in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia |
| NCT01817075 | PHASE3 | COMPLETED | Chlorhexidine Gluconate Cleansing in Preventing Central Line Associated Bloodstream Infection and Acquisition of Multi-drug Resistant Organisms in Younger Patients With Cancer or Undergoing Donor Stem Cell Transplant |
| NCT04098653 | PHASE2/PHASE3 | UNKNOWN | Decitabine + BUCY vs BUCY Conditioning Regimen for Myeloid Tumors Undergoing Allo-HSCT |
| NCT04123392 | PHASE2/PHASE3 | UNKNOWN | Decitabine + BUCY vs BUCY Conditioning Regimen for TP53+ Myeloid Tumors Undergoing Allo-HSCT |
| NCT03850418 | PHASE2 | RECRUITING | Azacitidine and Chimerism in MDS or AML Patients After Allogeneic Stem Cell Transplant |
| NCT03862157 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia |
| NCT04195945 | PHASE2 | ACTIVE_NOT_RECRUITING | CPX-351 or CLAG-M Regimen for the Treatment of Acute Myeloid Leukemia or Other High-Grade Myeloid Neoplasms in Medically Less-Fit Patients |
| NCT04501120 | PHASE1/PHASE2 | RECRUITING | Study of Lisaftoclax (APG-2575) Single Agent and Combination With Therapy in Patients Relapsed/Refractory AML |
| NCT04797767 | PHASE1/PHASE2 | RECRUITING | Venetoclax and CLAG-M for the Treatment of Acute Myeloid Leukemia and High-Grade Myeloid Neoplasms |
| NCT05031897 | PHASE2 | RECRUITING | Two Step Haplo With Radiation Conditioning |
| NCT05656248 | PHASE2 | ACTIVE_NOT_RECRUITING | Study of CPX-351 (VYXEOS) in Individuals < 22 Years With Secondary Myeloid Neoplasms |
| NCT05796570 | PHASE2 | RECRUITING | A Pilot Study to Evaluate the Feasibility of Post-Hematopoietic Stem Cell Transplant Prophylaxis With Decitabine Combined With Filgrastim for Children and Young Adults With AML, MDS and Related Myeloid Malignancies |
| NCT05841771 | PHASE2 | RECRUITING | Hypomethylating Agent and Venetoclax After Allo-HSCT in Patients With High-risk Myeloid Malignancies. |
| NCT06129734 | PHASE1/PHASE2 | RECRUITING | Decitabine and Venetoclax Treatment as Maintenance Therapy in Patients Post Allograft Stem Cell Transplant |
| NCT06383572 | PHASE1/PHASE2 | RECRUITING | Phase I/II Study of Engineered T Cell Receptor-Modified NK Cells Targeting PRAME in Conjunction With Lymphodepleting Chemotherapy for the Management of Relapse/Refractory Myeloid Malignancies |
| NCT06434662 | PHASE2 | RECRUITING | Mitoxantrone Hydrochloride Liposome Injection, Cytarabine Combined With Venetoclax in the Treatment of R/R AML |
| NCT06621212 | PHASE2 | RECRUITING | Mitoxantrone Hydrochloride Liposome, Standard-dose of Cytarabine and Venetoclax in the Treatment of R/R AML |
| NCT06668584 | PHASE2 | RECRUITING | A Phase II Open-label Study of Olutasidenib Post-transplant Maintenance Therapy for Patients With IDH1-mutated Myeloid Malignancies |
| NCT06917105 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Exploratory Clinical Study on the Safety and Efficacy of CAR-T Cell Therapy in the Treatment of Relapsed/Refractory Myeloid Malignancies |
| NCT06930651 | PHASE1/PHASE2 | RECRUITING | A Phase I/II Study of CAR.70-Engineered IL15-Transduced Cord Blood-Derived NK Cells With TGF-beta Receptor 2 (TGFBR2) Knock Out in Conjunction With Lymphodepleting Chemotherapy for the Management of Relapsed/Refractory Myeloid Malignancies |
| NCT07011186 | PHASE1/PHASE2 | RECRUITING | A Clinical Trial of TQB3909 Tablets in Combination With Azacitidine for the Treatment of Myeloid Malignancies |
| NCT01596699 | PHASE2 | TERMINATED | Pilot Trial of Clofarabine Added to Standard Busulfan and Fludarabine for Conditioning Prior to Allogeneic Hematopoietic Cell Transplantation |
| NCT01731951 | PHASE2 | COMPLETED | Imetelstat Sodium in Treating Participants With Primary or Secondary Myelofibrosis |
| NCT02452697 | PHASE2 | UNKNOWN | Ph2 NK Cell Enriched DCIs w/wo RLR9 Agonist, DUK-CPG-001 From Donors Following Allogeneic SCT |
| NCT02756572 | PHASE2 | COMPLETED | Early Allogeneic Hematopoietic Cell Transplantation in Treating Patients With Relapsed or Refractory High-Grade Myeloid Neoplasms |
| NCT02958384 | PHASE1/PHASE2 | UNKNOWN | A Clinical Research of LeY-Targeted CAR-T in Myeloid Malignancies |
| NCT02958397 | PHASE1/PHASE2 | UNKNOWN | A Clinical Research of CD33-Targeted CAR-T in Myeloid Malignancies |
| NCT03012672 | PHASE2 | COMPLETED | Higher or Lower Dose Cladribine, Cytarabine, and Mitoxantrone in Treating Medically Less Fit Patients With Newly Diagnosed Acute Myeloid Leukemia or Myeloid Neoplasm |
| NCT03270748 | PHASE2 | COMPLETED | Post Transplant High-Dose Cy as GvHD Prophylaxis in 1 HLA Mismatched Unrelated HSCT for Myeloid Malignancies |
| NCT04526288 | PHASE2 | TERMINATED | CPX-351 Versus Immediate Stem Cell Transplantation for the Treatment of High-Grade Myeloid Cancers With Measurable Residual Disease |
| NCT04778410 | PHASE2 | TERMINATED | Study of Magrolimab Combinations in Participants With Myeloid Malignancies |
| NCT04906031 | PHASE2 | UNKNOWN | Sodium Stibogluconate in the MDS/AML With One of the 65 Defined p53 Mutations |
| NCT05115630 | PHASE2 | COMPLETED | Off-the-shelf NK Cells + SCT for Myeloid Malignancies |
| NCT05579769 | PHASE2 | TERMINATED | Pediatric Study of GVHD Ppx w/o Calcineurin Inhibitors After Day60 Post First Allo HSCT for Hematological Malignancies. |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| MITOXANTRONE | 4 | 8 |
| CLADRIBINE | 4 | 5 |
| BUSULFAN | 4 | 3 |
| DECITABINE | 4 | 3 |
| MERCAPTOPURINE ANHYDROUS | 4 | 3 |
| SORAFENIB | 4 | 3 |
| TACROLIMUS ANHYDROUS | 4 | 2 |
| ARSENIC TRIOXIDE | 4 | 1 |
| ASPARAGINASE | 4 | 1 |
| BORTEZOMIB | 4 | 1 |
| CASPOFUNGIN ACETATE | 4 | 1 |
| CLOFARABINE | 4 | 1 |
| DAUNORUBICIN HYDROCHLORIDE | 4 | 1 |
| FLUCONAZOLE | 4 | 1 |
| FLUDARABINE PHOSPHATE | 4 | 1 |
| IDARUBICIN | 4 | 1 |
| MELPHALAN | 4 | 1 |
| OLUTASIDENIB | 4 | 1 |
| SODIUM STIBOGLUCONATE | 4 | 1 |
| TRETINOIN | 4 | 1 |
| VENETOCLAX | 4 | 1 |
| EPRENETAPOPT | 3 | 1 |
| FLUDARABINE | 3 | 1 |
| IMETELSTAT | 3 | 1 |
| MAGROLIMAB | 3 | 1 |
| NAVITOCLAX | 3 | 1 |
| OLVEREMBATINIB | 3 | 1 |
| PEVONEDISTAT | 3 | 1 |
| APG-2575 | 2 | 1 |
| CHEMBL4776881 | 0 | 5 |
Precision-medicine subtype map (CIViC)
Drug × molecular subtype: 6 predictive associations from 6 curated evidence items; also 6 oncogenic, 1 predisposing, 1 prognostic.
| Molecular subtype | Therapy | Effect | Level | CIViC |
|---|---|---|---|---|
| ZMYM2::FGFR1 Fusion OR BCR::FGFR1 Fusion OR CEP43::FGFR1 Fusion OR TRIM24::FGFR1 Fusion OR FGFR1 Translocation | Pemigatinib | Sensitivity/Response | CIViC A | EID11324 |
| ETV6::ABL1 Fusion | Imatinib + Dasatinib + Nilotinib | Sensitivity/Response | CIViC B | EID11326 |
| PCM1::JAK2 Fusion OR BCR::JAK2 Fusion | Ruxolitinib | Sensitivity/Response | CIViC B | EID11325 |
| SRSF2 P95H | CTX-712 | Sensitivity/Response | CIViC D | EID11028 |
| SRSF2 P95L | CTX-712 | Sensitivity/Response | CIViC D | EID11027 |
| FGFR3 V555M | Fexagratinib + AZ12908010 + PD173074 | Resistance | CIViC D | EID6408 |
Related Atlas pages
- Cohort genes: SRSF2, TP53, FGFR1, FGFR3, TRIP11
- Drugs: Mitoxantrone, Cladribine, Busulfan, Decitabine, Mercaptopurine, Sorafenib, Tacrolimus, Arsenic Trioxide, Asparaginase, Bortezomib, Caspofungin Acetate, Clofarabine, Daunorubicin, Fluconazole, Fludarabine Phosphate, Idarubicin, Melphalan, Olutasidenib, Sodium Stibogluconate, Tretinoin, Venetoclax, Eprenetapopt, Fludarabine, Imetelstat, Magrolimab, Navitoclax, Olverembatinib, Pevonedistat, Pemigatinib, Ruxolitinib