Ovarian sex cord-stromal tumor

Summary

Ovarian sex cord-stromal tumor (MONDO:0021657) is a cancer (an umbrella term covering 6 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver) and 8 clinical trials. Top therapeutic interventions include bleomycin, cisplatin, and etoposide phosphate.

At a glance

• Classification: Cancer
• Umbrella term: 6 Mondo subtypes
• Cohort genes: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ovarian sex cord-stromal tumor
Mondo ID	MONDO:0021657
DOID	DOID:0080369
NCIT	C4862
UMLS	C0600113
MedGen	154644
GARD	0012285
Anatomy (UBERON)	UBERON:0000992
Is cancer (heuristic)	yes

Also known as: ovarian sex cord tumor with annular tubules · ovarian sex cord tumour with annular tubules · ovarian Sex cord-stromal neoplasm · ovarian Sex cord-stromal tumor · ovarian Sex cord-stromal tumour · ovary sex cord-stromal tumor · ovary sex cord-stromal tumour · sex cord stromal tumor · sex cord stromal tumour · Sex cord-stromal neoplasm of ovary · Sex cord-stromal neoplasm of the ovary · Sex cord-stromal tumor of ovary · sex cord-stromal tumor of ovary · Sex cord-stromal tumor of the ovary · Sex cord-stromal tumour of ovary · sex cord-stromal tumour of ovary · Sex cord-stromal tumour of the ovary

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › reproductive system neoplasm › sex cord-stromal tumor › ovarian sex cord-stromal tumor

Related subtypes (8): Sertoli cell tumor, testicular sex cord-stromal neoplasm, granulosa cell tumor, Leydig cell tumor, gonadoblastoma, sex cord-stromal benign neoplasm, thecoma, fibrothecoma

Subtypes (6): malignant sex cord stromal tumor of ovary, ovarian gynandroblastoma, ovarian sertoli-stromal cell tumor, ovarian granulosa cell tumor, benign ovarian sex cord-stromal tumor, ovarian thecoma

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

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
FOXL2	Act	OVT	CIViC #72

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FOXL2	Orphanet:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus
FOXL2	Orphanet:572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
FOXL2	Orphanet:572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
FOXL2	Orphanet:99915	Malignant granulosa cell tumor of the ovary

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FOXL2	HGNC:1092	ENSG00000183770	P58012	Forkhead box protein L2	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FOXL2	Forkhead box protein L2	Transcriptional regulator.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FOXL2	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2

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
left ovary	1
ovary	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FOXL2	84	broad	marker	left ovary, stromal cell of endometrium, ovary

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FOXL2	1,727

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FOXL2	P58012	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
Transcriptional regulation of testis differentiation	1	713.8×	0.002	FOXL2
SUMOylation of transcription factors	1	571.0×	0.002	FOXL2

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
female somatic sex determination	1	16852.0×	5e-04	FOXL2
granulosa cell differentiation	1	16852.0×	5e-04	FOXL2
oocyte growth	1	4213.0×	0.001	FOXL2
positive regulation of luteinizing hormone secretion	1	3370.4×	0.001	FOXL2
extraocular skeletal muscle development	1	2808.7×	0.001	FOXL2
positive regulation of follicle-stimulating hormone secretion	1	2808.7×	0.001	FOXL2
embryonic eye morphogenesis	1	1532.0×	0.002	FOXL2
apoptotic DNA fragmentation	1	1203.7×	0.002	FOXL2
uterus development	1	802.5×	0.002	FOXL2
ovarian follicle development	1	391.9×	0.005	FOXL2
single fertilization	1	183.2×	0.009	FOXL2
anatomical structure morphogenesis	1	139.3×	0.011	FOXL2
positive regulation of apoptotic process	1	56.7×	0.024	FOXL2
negative regulation of DNA-templated transcription	1	31.6×	0.040	FOXL2
cell differentiation	1	29.1×	0.040	FOXL2
positive regulation of DNA-templated transcription	1	27.9×	0.040	FOXL2
negative regulation of transcription by RNA polymerase II	1	17.7×	0.060	FOXL2
regulation of transcription by RNA polymerase II	1	11.7×	0.086	FOXL2

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FOXL2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

0 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.

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	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FOXL2

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)
FOXL2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	5
Not specified	2
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02429700	PHASE3	RECRUITING	TC or BEP in Treating Patients With Ovarian Malignant Sex Cord-Stromal Tumors
NCT00006227	PHASE2	COMPLETED	Paclitaxel in Treating Patients With Ovarian Stromal Cancer
NCT00748657	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent Sex Cord-Stromal Tumors of the Ovary
NCT01042522	PHASE2	UNKNOWN	Paclitaxel and Carboplatin or Bleomycin Sulfate, Etoposide Phosphate, and Cisplatin in Treating Patients With Advanced or Recurrent Sex Cord-Ovarian Stromal Tumors
NCT01770301	PHASE2	COMPLETED	Efficacy and Safety of Bevacizumab (Avastin®) Combined to Weekly Paclitaxel Followed by Bevacizumab (Avastin®) Alone in Patients With Relapsed Ovarian Sex-cord Stromal Tumours (ALIENOR)
NCT03926936	PHASE2	COMPLETED	FUlvestrant in Gynecological Cancers That Are Potentially Hormone Sensitive: the FUCHSia Study
NCT01970696	Not specified	RECRUITING	International Ovarian & Testicular Stromal Tumor Registry
NCT03418844	Not specified	ACTIVE_NOT_RECRUITING	Living After a Rare Cancer of the Ovary: Chronic Fatigue, Quality of Life and Late Effects of Chemotherapy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BLEOMYCIN	4	2
CISPLATIN	4	2
ETOPOSIDE PHOSPHATE	4	1