Pancreatic intraductal papillary-mucinous neoplasm

Summary

Pancreatic intraductal papillary-mucinous neoplasm (MONDO:0004286) is a cancer with 16 GWAS associations across 2 studies and 35 clinical trials. Top therapeutic interventions include erlotinib hydrochloride, ferumoxytol, and gemcitabine hydrochloride. A subtype of malignant exocrine pancreas neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 16
• Clinical trials: 35

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pancreatic intraductal papillary-mucinous neoplasm
Mondo ID	MONDO:0004286
DOID	DOID:7575
NCIT	C38342
UMLS	C4511687
MedGen	1373306
GARD	0027673
Is cancer (heuristic)	yes

Also known as: intraductal papillary mucinous neoplasm · IPMN · pancreatic intraductal papillary-mucinous neoplasm · pancreatic intraductal papillary-mucinous tumor · pancreatic intraductal papillary-mucinous tumour · pancreatic IPMN

Data availability: 16 GWAS associations (2 studies) · 1 cell line.

Disease family

This is a subtype of malignant exocrine pancreas neoplasm. 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 body system or component › digestive system disorder › digestive system cancer › malignant pancreatic neoplasm › malignant exocrine pancreas neoplasm › pancreatic intraductal papillary-mucinous neoplasm

Related subtypes (3): exocrine pancreatic carcinoma, pancreatoblastoma, solid pseudopapillary neoplasm of the pancreas

Subtypes (3): pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia, pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia, pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma

Genetics & variants

GWAS landscape

16 GWAS associations across 2 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs117620617	2e-10	NUP35P2 - RNA5SP234	T	16.35
rs116276774	1e-08	USH2A	C	5.71
rs77789312	2e-08	GPC5	T	11.24
rs10517223	3e-08	PCDH7 - LINC02497	A	2.48
rs145104689	3e-08	FAT3	C	13.39
rs113897592	3e-08	TLN2	G	3.52
rs112528149	3e-08	LINC02813 - DNAH14	A	5.5
rs115567527	4e-08	LINC02934	C	8.14

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90435438	Gentiluomo M	2024	0	0	A genome-wide association study identifies eight loci associated with intraductal papillary mucinous neoplasm progression toward malignancy.
GCST90483377	Gentiluomo M	2024	0	0	A genome-wide association study identifies eight loci associated with intraductal papillary mucinous neoplasm progression toward malignancy.

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	8

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	6
intergenic_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs117620617	7	79574219	C>T		intergenic_variant	NUP35P2 - RNA5SP234	2e-10	Tier 4: intronic/intergenic
rs116276774	1	216304255	G>C	0.05	intron_variant	USH2A	1e-08	Tier 4: intronic/intergenic
rs77789312	13	92168062	C>T	0.05	intron_variant	GPC5	2e-08	Tier 4: intronic/intergenic
rs10517223	4	31152996	G>A,C	0.05	intergenic_variant	PCDH7 - LINC02497	3e-08	Tier 4: intronic/intergenic
rs145104689	11	92463599	T>C	0.05	intron_variant	FAT3	3e-08	Tier 4: intronic/intergenic
rs113897592	15	62459726	A>G	0.05	intron_variant	TLN2	3e-08	Tier 4: intronic/intergenic
rs112528149	1	224841756	G>A	0.05	intron_variant	LINC02813 - DNAH14	3e-08	Tier 4: intronic/intergenic
rs115567527	2	65498490	G>A,C	0.05	intron_variant	LINC02934	4e-08	Tier 4: intronic/intergenic

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 35.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	32
PHASE3	1
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01013649	PHASE3	COMPLETED	Gemcitabine Hydrochloride With or Without Erlotinib Hydrochloride Followed by the Same Chemotherapy Regimen With or Without Radiation Therapy and Capecitabine or Fluorouracil in Treating Patients With Pancreatic Cancer That Has Been Removed by Surgery
NCT04207944	PHASE2	ACTIVE_NOT_RECRUITING	The Prevention of Progression to Pancreatic Cancer Trial (The 3P-C Trial)
NCT00621556	PHASE1	TERMINATED	Secretin Enhanced MRCP for Evaluation of the Known or Suspected Intraductal Papillary Mucinous Neoplasms of the Pancreas
NCT02757859	Not specified	ACTIVE_NOT_RECRUITING	WASH Trial: Intraoperative Lavage as a Treatment for Pancreatic Cancer
NCT03305146	Not specified	ACTIVE_NOT_RECRUITING	Feasibility of Molecular Biology in Pancreatic Cyst Tumors
NCT03729453	Not specified	ACTIVE_NOT_RECRUITING	Intra-operative Pancreatoscopy in Patients With IPMN
NCT04291651	Not specified	RECRUITING	UCSF PANC Cyst Registry
NCT05117723	Not specified	RECRUITING	Intraductal Papillary Mucinous Neoplasm (IPMN) Database - A Tool to Predict Pancreatic Cancer
NCT05433935	Not specified	RECRUITING	Exploring Biomarkers of the Carcinogenesis of Intraductal Papillary Mucinous Neoplasm (IPMN) of the Pancreas
NCT06638866	Not specified	RECRUITING	AI-powered Early Detection for Pancreatic Cancer Via Non-contrast CT in Opportunistic Screening Cohort
NCT06712797	Not specified	ACTIVE_NOT_RECRUITING	Physical Activity and Nutrition to Halt Elevated Risk in the Pancreas Interception Center
NCT07014709	Not specified	NOT_YET_RECRUITING	Impact of GLP-1 Receptor Agonists on Patients With IPMN
NCT07056972	Not specified	NOT_YET_RECRUITING	Surveillance Discontinuation in 5 Year Stable Trivial Branch Duct Intraductal Papillary Mucinous Neoplasms
NCT07117045	Not specified	RECRUITING	Artificial Intelligence-powered Low-Dose Computed Tomography for Screening of Pancreatic Cancer
NCT07216521	Not specified	RECRUITING	Intent of Surgery for IPMN
NCT07535125	Not specified	NOT_YET_RECRUITING	IPEX Study: Pancreatic Exocrine Insufficiency as a Functional Marker of Disease Progression in Patients With IPMN
NCT00988416	Not specified	COMPLETED	Positron Emission Tomography-computed Tomography (PET-CT) for Main & Branch Intraductal Papillary Mucinous Neoplasm
NCT01094626	Not specified	WITHDRAWN	Secretin-enhanced Magnetic Resonance Imaging (S-MRI) for Pancreatic Cancer Detection
NCT01643460	Not specified	COMPLETED	Endoscopic Ultrasound (EUS)-Guided Ablation of Pancreatic Cysts
NCT02044926	Not specified	TERMINATED	Intraductal Papillary Mucinous Neoplasm With Malignant Change
NCT02070705	Not specified	TERMINATED	DCE MRI in Patients With Pancreatic Cancer
NCT02110498	Not specified	COMPLETED	Early Detection of Pancreatic Cystic Neoplasms
NCT02494388	Not specified	TERMINATED	Needle-based Confocal Laser Endomicroscopy on Pancreatic Cystic Lesions
NCT02523170	Not specified	COMPLETED	A Phase II MULTICENTRE Trial of Needle Based Laser Confocal Endomicroscopy of Cystic and Solid Tumours of the Pancreas
NCT03062124	Not specified	COMPLETED	SpyGlass in Preoperative Diagnostics of Presumed Main Duct IPMNs: Efficacy and Novel Insights on Complications
NCT03131076	Not specified	UNKNOWN	Quality of Life Assessment in Patients Who Are Under Surveillance for IPMN
NCT03520153	Not specified	WITHDRAWN	Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome
NCT03578445	Not specified	COMPLETED	Utility of EUS-guided Microbiopsies in Pancreatic Cystic Lesions
NCT03731819	Not specified	COMPLETED	Establishment of Abbreviated Pancreatobiliary MRI Protocol
NCT03838913	Not specified	UNKNOWN	Whole-Exome Sequencing (WES) of Intraductal Neoplasms of the Bile Duct (IPNB)
NCT03884179	Not specified	UNKNOWN	Diagnosis of PCL With EUS-FNA and Cross-sectional Imaging - A Report of Accuracy
NCT03914950	Not specified	COMPLETED	TOF-18F-FDG-PET/CT in Patients With Suspected Pancreatic Cancer
NCT04306939	Not specified	SUSPENDED	Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study
NCT04993846	Not specified	UNKNOWN	Pancreatic Cancer and Oral Microbiome
NCT06570174	Not specified	COMPLETED	Oral Protein Supplements for Nutritional and Quality of Life Improvement After Pancreatic Resection in Elderly Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ERLOTINIB HYDROCHLORIDE	4	1
FERUMOXYTOL	4	1
GEMCITABINE HYDROCHLORIDE	4	1
SECRETIN	4	1
SULINDAC	4	1