Acinar cell carcinoma

Summary

Acinar cell carcinoma (MONDO:0004965) is a cancer (an umbrella term covering 5 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver) and 4 clinical trials. Molecularly, BRAF Kinase Domain Duplication confers sensitivity to Regorafenib in Acinic Cell Carcinoma (CIViC Level C). Top therapeutic interventions include ipilimumab and rimiducid.

At a glance

• Classification: Cancer
• Umbrella term: 5 Mondo subtypes
• Cohort genes: 1
• Clinical trials: 4
• Precision-medicine evidence (CIViC): 1 subtype–drug association

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acinar cell carcinoma
Mondo ID	MONDO:0004965
EFO	EFO:0000216
MeSH	D018267
DOID	DOID:3025
ICD-11	1322159869
NCIT	C3768
UMLS	C0206685
MedGen	61660
GARD	0008568
Is cancer (heuristic)	yes

Also known as: ACCC · acinar adenocarcinoma · acinar carcinoma · acinar cell adenocarcinoma · acinar cell carcinoma · acinar cell carcinoma (morphologic abnormality) · acinic cell adenocarcinoma · acinic cell carcinoma · acinic cell tumor · acinic cell tumour · carcinoma of acinar cell · carcinoma, acinar cell, malignant

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › adenocarcinoma › acinar cell carcinoma

Related subtypes (63): epididymal adenocarcinoma, rete testis adenocarcinoma, seminal vesicle adenocarcinoma, ethmoid sinus adenocarcinoma, lacrimal gland adenocarcinoma, papillary adenocarcinoma, fallopian tube adenocarcinoma, bladder adenocarcinoma, ovarian adenocarcinoma, trabecular adenocarcinoma, middle ear adenocarcinoma, bile duct adenocarcinoma, granular cell carcinoma, small intestine adenocarcinoma, urethra adenocarcinoma, villous adenocarcinoma, thymus gland adenocarcinoma, nasal cavity adenocarcinoma, ureter adenocarcinoma, adenocarcinoma in situ, gastroesophageal junction adenocarcinoma, maxillary sinus adenocarcinoma, mucinous adenocarcinoma, adenoid cystic carcinoma, breast adenocarcinoma, clear cell adenocarcinoma, colorectal adenocarcinoma, endometrioid adenocarcinoma, esophageal adenocarcinoma, gastric adenocarcinoma, lung adenocarcinoma, prostate adenocarcinoma, renal cell carcinoma, signet ring cell carcinoma, cervical adenocarcinoma, serous adenocarcinoma, endometrium adenocarcinoma, sweat gland carcinoma, cystadenocarcinoma, tubular adenocarcinoma, mesonephric adenocarcinoma, scirrhous adenocarcinoma, pancreatic adenocarcinoma, follicular variant thyroid gland papillary carcinoma, gallbladder adenocarcinoma, hepatoid adenocarcinoma, intestinal type adenocarcinoma, micropapillary serous carcinoma, minor salivary gland adenocarcinoma, poorly differentiated thyroid gland carcinoma, salivary gland basal cell adenocarcinoma, submandibular gland adenocarcinoma, sebaceous adenocarcinoma, hepatocellular carcinoma, parathyroid gland carcinoma, pituitary adenocarcinoma, vaginal adenocarcinoma, Paget disease, diffuse type adenocarcinoma, vulvar adenocarcinoma, thyroid gland adenocarcinoma, gastroesophageal adenocarcinoma, adenoacanthoma

Subtypes (5): prostatic acinar adenocarcinoma, acinic cell breast carcinoma, pancreatic acinar cell carcinoma, parotid gland acinic cell carcinoma, salivary gland acinic cell carcinoma

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

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
NR4A3			CIViC #6415

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NR4A3	Orphanet:209916	Extraskeletal myxoid chondrosarcoma

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
NR4A3	HGNC:7982	ENSG00000119508	Q92570	Nuclear receptor subfamily 4 group A member 3	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NR4A3	Nuclear receptor subfamily 4 group A member 3	Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Nuclear receptor	1	385.9×	0.003

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NR4A3	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt

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
cauda epididymis	1
mucosa of paranasal sinus	1
mucosa of urinary bladder	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NR4A3	255	ubiquitous	marker	mucosa of paranasal sinus, mucosa of urinary bladder, cauda epididymis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NR4A3	1,592

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NR4A3	Q92570	1

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
Nuclear Receptor transcription pathway	1	200.3×	0.008	NR4A3
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	1	120.2×	0.008	NR4A3

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 mast cell activation by Fc-epsilon receptor signaling pathway	1	16852.0×	0.001	NR4A3
smooth muscle cell apoptotic process	1	8426.0×	0.001	NR4A3
dendritic cell apoptotic process	1	5617.3×	0.001	NR4A3
positive regulation of monocyte aggregation	1	5617.3×	0.001	NR4A3
vestibular reflex	1	4213.0×	0.001	NR4A3
cellular response to corticotropin-releasing hormone stimulus	1	4213.0×	0.001	NR4A3
positive regulation of dendritic cell apoptotic process	1	4213.0×	0.001	NR4A3
positive regulation of mast cell cytokine production	1	3370.4×	0.002	NR4A3
semicircular canal morphogenesis	1	2407.4×	0.002	NR4A3
cellular response to catecholamine stimulus	1	2407.4×	0.002	NR4A3
positive regulation of feeding behavior	1	2407.4×	0.002	NR4A3
positive regulation of D-glucose transmembrane transport	1	2106.5×	0.002	NR4A3
regulation of type B pancreatic cell proliferation	1	2106.5×	0.002	NR4A3
common myeloid progenitor cell proliferation	1	1872.4×	0.002	NR4A3
cellular response to leptin stimulus	1	1532.0×	0.002	NR4A3
negative regulation of smooth muscle cell apoptotic process	1	1404.3×	0.002	NR4A3
regulation of smooth muscle cell proliferation	1	1296.3×	0.002	NR4A3
positive regulation of vascular associated smooth muscle cell migration	1	991.3×	0.002	NR4A3
positive regulation of cardiac muscle hypertrophy	1	732.7×	0.003	NR4A3
gastrulation	1	702.2×	0.003	NR4A3
mast cell degranulation	1	624.1×	0.003	NR4A3
platelet-derived growth factor receptor signaling pathway	1	561.7×	0.003	NR4A3
mesoderm formation	1	495.6×	0.003	NR4A3
adult behavior	1	468.1×	0.003	NR4A3
response to hydrogen peroxide	1	468.1×	0.003	NR4A3
positive regulation of cell cycle	1	443.5×	0.003	NR4A3
cellular respiration	1	432.1×	0.003	NR4A3
positive regulation of vascular associated smooth muscle cell proliferation	1	432.1×	0.003	NR4A3
positive regulation of smooth muscle cell proliferation	1	330.4×	0.004	NR4A3
neuromuscular process controlling balance	1	330.4×	0.004	NR4A3

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · 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).

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
NR4A3	OXAPROZIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NR4A3	3	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
OXAPROZIN	4	NR4A3
IBRUTINIB	4	NR4A3
VIDOFLUDIMUS	3	NR4A3

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
NR4A3	64	Binding:63, Functional:1

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

3 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)
OXAPROZIN	4	NR4A3
IBRUTINIB	4	NR4A3
VIDOFLUDIMUS	3	NR4A3

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	NR4A3
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	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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1
PHASE1/PHASE2	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT04657068	PHASE1/PHASE2	RECRUITING	A Study of ART0380 for the Treatment of Advanced or Metastatic Solid Tumors
NCT04249947	PHASE1	TERMINATED	P-PSMA-101 CAR-T Cells in the Treatment of Subjects With Metastatic Castration-Resistant Prostate Cancer (mCRPC) and Advanced Salivary Gland Cancers (SGC)
NCT02757859	Not specified	ACTIVE_NOT_RECRUITING	WASH Trial: Intraoperative Lavage as a Treatment for Pancreatic Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IPILIMUMAB	4	1
RIMIDUCID	2	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 1 predictive associations from 1 curated evidence items; also 5 diagnostic.

Molecular subtype	Therapy	Effect	Level	CIViC
BRAF Kinase Domain Duplication	Regorafenib	Sensitivity/Response	CIViC C	EID12470