Uterine corpus sarcoma

Summary

Uterine corpus sarcoma (MONDO:0005210) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver) and 53 clinical trials. Top therapeutic interventions include pegfilgrastim, doxorubicin, and gemcitabine.

At a glance

• Classification: Cancer
• Cohort genes: 1
• Clinical trials: 53

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	uterine corpus sarcoma
Mondo ID	MONDO:0005210
EFO	EFO:0002914
Orphanet	213620
DOID	DOID:5165
NCIT	C6339
SNOMED CT	254877001
UMLS	C0338113
MedGen	137837
GARD	0020476
MedDRA	10039497
Anatomy (UBERON)	UBERON:0009853
Is cancer (heuristic)	yes

Also known as: body of uterus sarcoma · corpus uteri sarcoma · sarcoma of body of uterus · sarcoma of corpus uteri · sarcoma of the body of uterus · sarcoma of the corpus uteri · sarcoma of the uterine body · sarcoma of the uterine corpus · sarcoma of the uterus · sarcoma of uterine body · sarcoma of uterine corpus · sarcoma of uterus · uterine body sarcoma · uterine sarcoma · uterine sarcoma/mesenchymal · uterus sarcoma

Data availability: 1 GenCC gene-disease record · 6 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › sarcoma › uterine corpus sarcoma

Related subtypes (21): rectum sarcoma, ectomesenchymoma, spindle cell sarcoma, colon sarcoma, sarcomatosis, dendritic cell sarcoma, orbit sarcoma, sarcoma G1, giant cell tumor of soft tissue, lymphangiosarcoma, endometrioid stromal sarcoma, myeloid sarcoma, small cell sarcoma, chondrosarcoma, osteosarcoma, reticulum cell sarcoma, Ewing sarcoma, sarcoma of cervix uteri, soft tissue sarcoma, mast cell sarcoma, bone sarcoma

Subtypes (3): uterine corpus endometrial stromal sarcoma, uterine corpus rhabdomyosarcoma, leiomyosarcoma of the corpus uteri

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

Mendelian disease overlap and somatic drivers

GenCC: 14 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
SMARCA4	Act	BL,BLADDER,BLCA,CCRCC,CHOL,COAD,COADREAD,EGC,ESCA,ESCC,HCC,HNSC,LGGNOS,LUAD,MBL,MLYM,NHL,NSCLC,OVT,PAAD,PANCREAS,PAST,PRCC,SACA,STAD,THYM	CIViC #78

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
SMARCA4	Moderate	Autosomal recessive	uterine corpus sarcoma	14

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SMARCA4	Orphanet:1465	Coffin-Siris syndrome
SMARCA4	Orphanet:231108	Rhabdoid tumor predisposition syndrome
SMARCA4	Orphanet:370396	Small cell carcinoma of the ovary
SMARCA4	Orphanet:466962	SMARCA4-deficient sarcoma of thorax

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SMARCA4	HGNC:11100	ENSG00000127616	P51532	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SMARCA4	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SMARCA4	Other/Unknown	no		SNF2_N, Bromodomain, Helicase_C-like

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cervix squamous epithelium	1
cortical plate	1
ganglionic eminence	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SMARCA4	295	ubiquitous	marker	ganglionic eminence, cortical plate, cervix squamous epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMARCA4	8,138

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SMARCA4	P51532	31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 32. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Formation of the non-canonical BAF (ncBAF) complex	1	671.8×	0.012	SMARCA4
Formation of the canonical BAF (cBAF) complex	1	634.4×	0.012	SMARCA4
Formation of the polybromo-BAF (pBAF) complex	1	634.4×	0.012	SMARCA4
Formation of the embryonic stem cell BAF (esBAF) complex	1	601.0×	0.012	SMARCA4
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	1	456.8×	0.012	SMARCA4
EGR2 and SOX10-mediated initiation of Schwann cell myelination	1	368.4×	0.012	SMARCA4
Regulation of endogenous retroelements	1	368.4×	0.012	SMARCA4
Interleukin-7 signaling	1	317.2×	0.012	SMARCA4
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	1	300.5×	0.012	SMARCA4
Regulation of MITF-M-dependent genes involved in pigmentation	1	265.6×	0.012	SMARCA4
MITF-M-dependent gene expression	1	181.3×	0.014	SMARCA4
RMTs methylate histone arginines	1	146.4×	0.014	SMARCA4
Transcriptional regulation by RUNX1	1	146.4×	0.014	SMARCA4
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	1	146.4×	0.014	SMARCA4
Formation of the beta-catenin:TCF transactivating complex	1	120.2×	0.014	SMARCA4
Negative Regulation of CDH1 Gene Transcription	1	120.2×	0.014	SMARCA4
TCF dependent signaling in response to WNT	1	117.7×	0.014	SMARCA4
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	1	117.7×	0.014	SMARCA4
MITF-M-regulated melanocyte development	1	114.2×	0.014	SMARCA4
Signaling by WNT	1	112.0×	0.014	SMARCA4
Chromatin organization	1	81.6×	0.019	SMARCA4
Chromatin modifying enzymes	1	72.3×	0.019	SMARCA4
Epigenetic regulation of gene expression	1	71.4×	0.019	SMARCA4
Signaling by Interleukins	1	64.2×	0.021	SMARCA4
Nervous system development	1	42.9×	0.030	SMARCA4
Cytokine Signaling in Immune system	1	40.8×	0.030	SMARCA4
RNA Polymerase II Transcription	1	22.5×	0.053	SMARCA4
Gene expression (Transcription)	1	17.8×	0.064	SMARCA4
Generic Transcription Pathway	1	15.1×	0.073	SMARCA4
Developmental Biology	1	14.5×	0.074	SMARCA4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 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 glucose mediated signaling pathway	1	5617.3×	0.005	SMARCA4
RNA polymerase I preinitiation complex assembly	1	3370.4×	0.005	SMARCA4
positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	1	1532.0×	0.005	SMARCA4
positive regulation of signal transduction by p53 class mediator	1	1203.7×	0.005	SMARCA4
neural retina development	1	936.2×	0.005	SMARCA4
negative regulation of androgen receptor signaling pathway	1	936.2×	0.005	SMARCA4
host-mediated activation of viral transcription	1	887.0×	0.005	SMARCA4
nucleosome disassembly	1	802.5×	0.005	SMARCA4
regulation of G0 to G1 transition	1	674.1×	0.005	SMARCA4
regulation of nucleotide-excision repair	1	601.9×	0.005	SMARCA4
regulation of mitotic metaphase/anaphase transition	1	495.6×	0.005	SMARCA4
positive regulation of T cell differentiation	1	455.5×	0.005	SMARCA4
positive regulation of Wnt signaling pathway	1	383.0×	0.005	SMARCA4
transcription initiation-coupled chromatin remodeling	1	383.0×	0.005	SMARCA4
positive regulation of myoblast differentiation	1	366.4×	0.005	SMARCA4
positive regulation of stem cell population maintenance	1	343.9×	0.005	SMARCA4
positive regulation of double-strand break repair	1	343.9×	0.005	SMARCA4
regulation of G1/S transition of mitotic cell cycle	1	306.4×	0.006	SMARCA4
positive regulation of miRNA transcription	1	290.6×	0.006	SMARCA4
negative regulation of cell differentiation	1	285.6×	0.006	SMARCA4
positive regulation of cell differentiation	1	267.5×	0.006	SMARCA4
heterochromatin formation	1	255.3×	0.006	SMARCA4
positive regulation of cold-induced thermogenesis	1	163.6×	0.009	SMARCA4
negative regulation of cell growth	1	144.0×	0.009	SMARCA4
chromatin remodeling	1	73.0×	0.018	SMARCA4
nervous system development	1	45.9×	0.027	SMARCA4
positive regulation of cell population proliferation	1	33.6×	0.035	SMARCA4
negative regulation of DNA-templated transcription	1	31.6×	0.036	SMARCA4
positive regulation of DNA-templated transcription	1	27.9×	0.039	SMARCA4
negative regulation of transcription by RNA polymerase II	1	17.7×	0.060	SMARCA4

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SMARCA4	2	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	SMARCA4
CAMIBIRSTAT	2	SMARCA4

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
SMARCA4	230	Binding:207, ADMET:12, Functional:11

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
SMARCA4	230

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

2 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)
MOLIBRESIB	2	SMARCA4
CAMIBIRSTAT	2	SMARCA4

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	SMARCA4
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 53.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	22
Not specified	19
PHASE3	6
PHASE1	5
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03422198	PHASE3	RECRUITING	Short Course Vaginal Cuff Brachytherapy in Treating Participants With Stage I-II Endometrial Cancer
NCT00002706	PHASE3	COMPLETED	Laparoscopic Surgery or Standard Surgery in Treating Patients With Endometrial Cancer or Cancer of the Uterus
NCT00162721	PHASE3	UNKNOWN	The Addition of Polychemotherapy to Adjuvant Radiotherapy in the Treatment of Non-Metastatic Uterine Sarcomas
NCT00954174	PHASE3	UNKNOWN	Paclitaxel and Carboplatin or Ifosfamide in Treating Patients With Newly Diagnosed, Persistent or Recurrent Uterine, Ovarian, Fallopian Tube, or Peritoneal Cavity Cancer
NCT01012297	PHASE3	TERMINATED	Gemcitabine Hydrochloride and Docetaxel With or Without Bevacizumab in Treating Patients With Advanced or Recurrent Uterine Leiomyosarcoma
NCT01533207	PHASE3	TERMINATED	Gemcitabine Hydrochloride and Docetaxel Followed by Doxorubicin Hydrochloride or Observation in Treating Patients With High-Risk Uterine Leiomyosarcoma Previously Removed by Surgery
NCT07467772	PHASE2	RECRUITING	Ph 2 Elacestrant in ER Positive Uterine Sarcomas
NCT00025220	PHASE2	COMPLETED	Thalidomide in Treating Patients With Recurrent or Persistent Cancer of the Uterus
NCT00025506	PHASE2	COMPLETED	Thalidomide in Treating Patients With Recurrent or Persistent Carcinosarcoma of the Uterus
NCT00031629	PHASE2	COMPLETED	Combination Chemotherapy and Filgrastim or Pegfilgrastim in Treating Patients With Recurrent or Persistent Cancer of the Uterus
NCT00075400	PHASE2	COMPLETED	Imatinib Mesylate in Treating Patients With Recurrent or Persistent Uterine Cancer
NCT00114218	PHASE2	COMPLETED	Gemcitabine and Docetaxel in Treating Patients With Recurrent or Persistent Uterine Cancer
NCT00238121	PHASE2	COMPLETED	Sorafenib in Treating Patients With Advanced or Recurrent Uterine Cancer
NCT00245102	PHASE2	COMPLETED	Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma
NCT00378911	PHASE2	COMPLETED	Sunitinib in Treating Patients With Recurrent or Persistent Leiomyosarcoma of the Uterus
NCT00390234	PHASE2	COMPLETED	Ziv-aflibercept in Treating Patients With Locally Advanced, Unresectable, or Metastatic Gynecologic Soft Tissue Sarcoma
NCT00659360	PHASE2	COMPLETED	AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma
NCT01061606	PHASE2	TERMINATED	Temsirolimus in Treating Patients With Recurrent or Persistent Cancer of the Uterus
NCT01079832	PHASE2	COMPLETED	Stereotactic Radiosurgery Using CyberKnife in Treating Women With Advanced or Recurrent Gynecological Malignancies
NCT01154452	PHASE1/PHASE2	COMPLETED	Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma
NCT01168232	PHASE2	COMPLETED	Ixabepilone in Treating Patients With Recurrent or Persistent Uterine Cancer
NCT01220609	PHASE2	COMPLETED	Ixabepilone in Treating Patients With Recurrent or Persistent Leiomyosarcoma of the Uterus Previously Treated With Chemotherapy
NCT01247571	PHASE2	COMPLETED	Pazopanib Hydrochloride in Treating Patients With Recurrent or Persistent Uterine Cancer
NCT01303094	PHASE2	COMPLETED	Continuing vs Intermittent Trabectedin in Patients With Advanced Soft Tissue Sarcoma
NCT01553539	PHASE2	COMPLETED	Therapeutic Angiotensin-(1-7) in Treating Patients With Metastatic Sarcoma That Cannot Be Removed By Surgery
NCT01637961	PHASE2	COMPLETED	Alisertib in Treating Patients With Recurrent or Persistent Leiomyosarcoma of the Uterus
NCT01764802	PHASE2	COMPLETED	Psychosexual Intervention in Patients With Stage I-III Gynecologic or Breast Cancer
NCT01979393	PHASE2	COMPLETED	IRCI Gynae Sarcomas, High Grade Uterine Sarcoma
NCT05481645	PHASE2	TERMINATED	Efficacy and Safety of TQB2450 Injection Combined With Chemotherapy ± Anlotinib Hydrochloride Capsules for Advanced Endometrial Cancer or Sarcoma of Uterus.
NCT00004241	PHASE1	COMPLETED	17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Advanced Epithelial Cancer, Malignant Lymphoma, or Sarcoma
NCT00020267	PHASE1	COMPLETED	Vaccine Therapy in Treating Patients With Metastatic Cancer
NCT01155258	PHASE1	COMPLETED	Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors
NCT01548482	PHASE1	COMPLETED	Trebananib And Temsirolimus in Treating Patients With Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery
NCT01652794	PHASE1	COMPLETED	Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer
NCT04634617	Not specified	ACTIVE_NOT_RECRUITING	Pelvic Floor Dysfunction and Quality of Life in Uterine Cancer Survivors
NCT06244251	Not specified	ACTIVE_NOT_RECRUITING	Comparison Between Laparoendoscopic Single-site Surgery and Multi-port Laparoscopy in Treating Uterine Fibroids
NCT06582108	Not specified	NOT_YET_RECRUITING	UNDERSTANDING the RAREST GYNECOLOGICAL CANCERS: a MULTI -OMICS PLATFORM for IMPROVED PATIENTS MANAGEMENT
NCT06805019	Not specified	RECRUITING	Construction of a Model for the Differential Diagnosis of SArcoma/myoma Based on the RAdiomics Features: Single-center Observational Study
NCT07129005	Not specified	ENROLLING_BY_INVITATION	Radiomics-Based Non-Invasive MRI Differentiation of Uterine Sarcomas and Fibroids
NCT07267780	Not specified	NOT_YET_RECRUITING	Contribution of Oncovascular Surgery in the Treatment of Gynecological Advanced Malignant Diseases.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PEGFILGRASTIM	4	3
DOXORUBICIN	4	2
GEMCITABINE	4	2
IFOSFAMIDE	4	2
IXABEPILONE	4	2
SORAFENIB	4	2
CABOZANTINIB	4	1
ELACESTRANT	4	1
IMATINIB	4	1
PAZOPANIB HYDROCHLORIDE	4	1
SUNITINIB MALATE	4	1
TEMSIROLIMUS	4	1
TRABECTEDIN	4	1
VISMODEGIB	4	1
ALISERTIB	3	1
BENMELSTOBART	3	1
SARACATINIB	3	1
TANESPIMYCIN	3	1
TREBANANIB	3	1
TALFIRASTIDE	2	1
CHEMBL3109278	0	1
CHEMBL4438584	0	1
CHEMBL4215501	0	1
CHEMBL4849721	0	1
CHEMBL4786163	0	1
CHEMBL4079877	0	1
EXELIXIS	0	1
MOTEXAFIN LUTETIUM	-1	1