Carcinoid tumor

disease
On this page

Also known as carcinoidcarcinoid tumor (disease)carcinoid tumour (disease)NET G1neuroendocrine neoplasm G1neuroendocrine tumor G1neuroendocrine tumour G1

Summary

Carcinoid tumor (MONDO:0005369) is a cancer (an umbrella term covering 7 Mondo subtypes) with 4 cohort genes (4 GWAS associations across 1 studies; 1 CIViC-evidence somatic driver) and 67 clinical trials. Top therapeutic interventions include edotreotide gallium ga-68, lanreotide, and pasireotide.

At a glance

  • Classification: Cancer
  • Umbrella term: 7 Mondo subtypes
  • Cohort genes: 4
  • GWAS associations: 4
  • Clinical trials: 67

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namecarcinoid tumor
Mondo IDMONDO:0005369
EFOEFO:0004243
MeSHD002276
NCITC2915
SNOMED CT443492008
UMLSC0007095
MedGen2838
GARD0024176
Is cancer (heuristic)yes

Also known as: carcinoid · carcinoid tumor · carcinoid tumor (disease) · carcinoid tumour (disease) · NET G1 · neuroendocrine neoplasm G1 · neuroendocrine tumor G1 · neuroendocrine tumour G1

Data availability: 4 GWAS associations (1 study) · 1 HPO phenotype.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumorneoplastic disease or syndromeneoplasmendocrine gland neoplasmneuroendocrine neoplasmcarcinoid tumor

Related subtypes (13): paraganglioma, neuroendocrine carcinoma, prostate neuroendocrine neoplasm, ovarian neuroendocrine neoplasm, breast neuroendocrine neoplasm, lung neuroendocrine neoplasm, laryngeal neuroendocrine neoplasm, middle ear neuroendocrine tumor, hereditary pheochromocytoma-paraganglioma, bronchial endocrine tumor, thymic neuroendocrine tumor, uterine corpus neuroendocrine neoplasm, digestive system neuroendocrine neoplasm

Subtypes (7): lung carcinoid tumor, atypical carcinoid tumor, gastric neuroendocrine tumor G1, somatostatinoma, intestinal neuroendocrine tumor G1, pancreatic neuroendocrine tumor G1, childhood carcinoid tumor

Genetics & variants

GWAS landscape

4 GWAS associations across 1 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs22080594e-07KIF16B?2.42
rs100892e-06SLC12A2?2.56
rs9751217e-06FGF12?2.17
rs22067348e-06CDKAL1?3.45

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST000908Walsh KM20102390A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic3

MAF distribution

BucketVariants
common (>=0.05)4
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant3
3_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs22080592016330665T>C0.05intron_variantKIF16B4e-07Tier 4: intronic/intergenic
rs100895128186851C>A,T0.053_prime_UTR_variantSLC12A22e-06Tier 2: splice/UTR
rs9751213192179429G>A,C0.05intron_variantFGF127e-06Tier 4: intronic/intergenic
rs2206734620694653C>A,G,T0.05intron_variantCDKAL18e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
SLC12A2CIViC #5323

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
SLC12A2Orphanet:633021SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
SLC12A2Orphanet:633024SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
FGF12Orphanet:442835Non-specific early-onset epileptic encephalopathy

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only4

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SLC12A2HGNC:10911ENSG00000064651P55011Solute carrier family 12 member 2gwas
KIF16BHGNC:15869ENSG00000089177Q96L93Kinesin-like protein KIF16Bgwas
CDKAL1HGNC:21050ENSG00000145996Q5VV42Threonylcarbamoyladenosine tRNA methylthiotransferasegwas
FGF12HGNC:3668ENSG00000114279P61328Fibroblast growth factor 12gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SLC12A2Solute carrier family 12 member 2Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane.
KIF16BKinesin-like protein KIF16BPlus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation.
CDKAL1Threonylcarbamoyladenosine tRNA methylthiotransferaseCatalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.
FGF12Fibroblast growth factor 12Involved in nervous system development and function.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.25

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.

FamilyGenesFoldFDR
Enzyme (other)13.0×0.404
Other/Unknown31.3×0.404

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SLC12A2Other/UnknownnoSLC12A1/SLC12A2, NKCC1, AA-permease/SLC12A_dom
KIF16BEnzyme (other)yes5.6.1.3FHA_dom, PX_dom, Kinesin_motor_dom
CDKAL1Other/UnknownnoTRAM_dom, Methylthiotransferase, MiaB-like_arc_euk
FGF12Other/UnknownnoFibroblast_GF_fam, IL1/FGF

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)4
unknown0

Top tissues across cohort

TissueCohort genes
inferior vagus X ganglion1
palpebral conjunctiva1
parotid gland1
colonic mucosa1
jejunal mucosa1
sural nerve1
buccal mucosa cell1
calcaneal tendon1
ganglionic eminence1
cardiac atrium1
cardiac muscle of right atrium1
right atrium auricular region1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SLC12A2277ubiquitousmarkerpalpebral conjunctiva, parotid gland, inferior vagus X ganglion
KIF16B261ubiquitousmarkersural nerve, jejunal mucosa, colonic mucosa
CDKAL1201ubiquitousmarkerbuccal mucosa cell, calcaneal tendon, ganglionic eminence
FGF12204broadmarkerright atrium auricular region, cardiac atrium, cardiac muscle of right atrium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CDKAL12,724
SLC12A22,461
FGF121,639
KIF16B995

Structural data

PDB: 3 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
SLC12A2P5501114
KIF16BQ96L932
FGF12P613282

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
CDKAL1Q5VV4282.72

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 16. Enrichment computed across 4 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Cation-coupled Chloride cotransporters1407.9×0.039SLC12A2
tRNA processing189.2×0.054CDKAL1
Phase 0 - rapid depolarisation186.5×0.054FGF12
tRNA modification in the nucleus and cytosol173.2×0.054CDKAL1
Kinesins144.6×0.067KIF16B
Golgi-to-ER retrograde transport133.2×0.067KIF16B
R-HSA-425393132.4×0.067SLC12A2
COPI-dependent Golgi-to-ER retrograde traffic127.7×0.067KIF16B
Intra-Golgi and retrograde Golgi-to-ER traffic126.2×0.067KIF16B
Factors involved in megakaryocyte development and platelet production116.6×0.094KIF16B
SLC-mediated transmembrane transport114.8×0.096SLC12A2
Metabolism of RNA110.4×0.117CDKAL1
Membrane Trafficking19.3×0.117KIF16B
Hemostasis19.0×0.117KIF16B
Vesicle-mediated transport18.7×0.117KIF16B
Transport of small molecules16.3×0.150SLC12A2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
tRNA methylthiolation14213.0×0.003CDKAL1
positive regulation of cell volume14213.0×0.003SLC12A2
regulation of voltage-gated sodium channel activity14213.0×0.003FGF12
formation of primary germ layer12106.5×0.003KIF16B
inorganic anion import across plasma membrane12106.5×0.003SLC12A2
inorganic cation import across plasma membrane12106.5×0.003SLC12A2
positive regulation of aspartate secretion12106.5×0.003SLC12A2
regulation of matrix metallopeptidase secretion12106.5×0.003SLC12A2
maintenance of translational fidelity11404.3×0.004CDKAL1
regulation of neuronal action potential11053.2×0.005FGF12
regulation of spontaneous synaptic transmission11053.2×0.005SLC12A2
negative regulation of vascular wound healing1842.6×0.005SLC12A2
transepithelial ammonium transport1842.6×0.005SLC12A2
regulation of receptor recycling1702.2×0.005KIF16B
transepithelial chloride transport1468.1×0.007SLC12A2
ammonium transmembrane transport1468.1×0.007SLC12A2
hyperosmotic response1421.3×0.007SLC12A2
intracellular chloride ion homeostasis1421.3×0.007SLC12A2
chloride ion homeostasis1383.0×0.007SLC12A2
T cell chemotaxis1280.9×0.008SLC12A2
receptor catabolic process1280.9×0.008KIF16B
Golgi to endosome transport1263.3×0.008KIF16B
cellular response to potassium ion1263.3×0.008SLC12A2
regulation of sodium ion transmembrane transport1263.3×0.008FGF12
intracellular potassium ion homeostasis1247.8×0.008SLC12A2
cellular response to chemokine1247.8×0.008SLC12A2
sodium ion homeostasis1234.1×0.009SLC12A2
vesicle transport along microtubule1221.7×0.009KIF16B
positive regulation of sodium ion transport1210.7×0.009FGF12
intracellular sodium ion homeostasis1191.5×0.009SLC12A2

Therapeutics

Drugs indicated for this disease

1 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
INTERFERON ALFA-2BApproved (phase 4)
EdotreotidePhase 3 (in late-stage trials)
EverolimusPhase 3 (in late-stage trials)
LanreotidePhase 3 (in late-stage trials)
OctreotidePhase 3 (in late-stage trials)
PasireotidePhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aflibercept, Axitinib, Bevacizumab, Cabozantinib, Carboplatin, Catequentinib, Cisplatin, Estradiol, Etoposide, Famitinib, Filgrastim, Floxuridine, Fluorouracil, Ibrutinib, Ipilimumab, Nintedanib, Nivolumab, Oxaliplatin, PEGINTERFERON ALFA-2B, Patupilone, Pegfilgrastim, Pembrolizumab, Ramucirumab, Somatostatin, Sunitinib, Temozolomide, Temsirolimus.

Drug target analysis

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

Druggability breadth: 2 of 4 evidence-associated genes (50%) 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.

SymbolExample approved molecule
SLC12A2BUMETANIDE

Top cohort targets by molecule count

SymbolMoleculesMax phase
SLC12A214
KIF16B00
CDKAL100
FGF1200

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
BUMETANIDE4SLC12A2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
SLC12A213Binding:9, Functional:4
CDKAL11Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
KIF16B5.6.1.3plus-end-directed kinesin ATPase

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

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

Drug repurposing candidates

1 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.

CompoundMax phaseCohort target (bioactivity)
BUMETANIDE4SLC12A2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1SLC12A2
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1KIF16B
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug2CDKAL1, FGF12

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
KIF16B0
CDKAL11
FGF120

Clinical trials & evidence

Clinical trials

Clinical trials: 67.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE230
Not specified16
PHASE110
PHASE35
PHASE1/PHASE24
EARLY_PHASE12

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05477576PHASE3RECRUITINGStudy of RYZ101 Compared With SOC in Pts w Inoperable SSTR+ Well-differentiated GEP-NET That Has Progressed Following 177Lu-SSA Therapy
NCT07087054PHASE3RECRUITINGCarcinoid Syndrome Efficacy Study Featuring an Oral Daily Paltusotine Regimen
NCT00227136PHASE3TERMINATEDEffect of Oral 5-HTP Intake on Urinary 5-HIAA Excretion
NCT00412061PHASE3COMPLETEDEverolimus and Octreotide in Patients With Advanced Carcinoid Tumor
NCT01373736PHASE3UNKNOWN123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors
NCT02628067PHASE2ACTIVE_NOT_RECRUITINGStudy of Pembrolizumab (MK-3475) in Participants With Advanced Solid Tumors (MK-3475-158/KEYNOTE-158)
NCT02754297PHASE2ACTIVE_NOT_RECRUITINGPersonalized PRRT of Neuroendocrine Tumors
NCT03950609PHASE2ACTIVE_NOT_RECRUITINGLenvatinib and Everolimus in Treating Patients With Advanced, Unresectable Carcinoid Tumors
NCT05263050PHASE2RECRUITINGTrial of an Alternative Cabozantinib Dosing Schedule in Metastatic Renal Cell Carcinoma and Neuroendocrine Tumors
NCT05969860PHASE2RECRUITINGAt-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer
NCT06790706PHASE2RECRUITINGIMMUNORARE5: A National Platform of 5 Academic Phase II Trials Coordinated by Lyon University Hospital to Assess the Safety and the Efficacy of the IMMUNOtherapy With Domvanalimab + Zimberelimab Combination in Patients With Advanced RARE Cancers
NCT00050349PHASE2COMPLETEDEPO906 in Carcinoid and Other Neuroendocrine Tumors
NCT00088595PHASE2COMPLETEDStudy Evaluating SOM230 in Patients With Metastatic Carcinoid Tumors
NCT00328497PHASE2COMPLETEDA Combination Study to Determine the Safety and Efficacy of Panzem NCD With Avastin in Metastatic Carcinoid Tumors
NCT00688623PHASE2COMPLETEDRAMSETE: RAD001 in Advanced and Metastatic Silent Neuro-endocrine Tumors in Europe
NCT00780663PHASE2COMPLETEDQuarfloxin in Patients With Low to Intermediate Grade Neuroendocrine Carcinoma
NCT00947167PHASE2TERMINATEDA Phase II Study of Pertuzumab and Erlotinib for Metastatic or Unresectable Neuroendocrine Tumors
NCT01024387PHASE2COMPLETEDAMG 479 in Advanced Carcinoid and Pancreatic Neuroendocrine Tumors
NCT01175096PHASE1/PHASE2UNKNOWNSafety and Tolerability Profile of RAD001 Daily in Chinese Patients With Advanced Pulmonary Neuroendocrine Tumor
NCT01253161PHASE2COMPLETEDStudy of Pasireotide Long Acting Release (LAR) in Patients With Metastatic Neuroendocrine Tumors (NETs)
NCT01327612PHASE2COMPLETEDOpen Label Extension Study of Conatumumab and Ganitumab (AMG 479)
NCT01435122PHASE2COMPLETEDA Study of Axitinib in Advanced Carcinoid Tumors
NCT01466036PHASE2COMPLETEDCabozantinib in Advanced Pancreatic Neuroendocrine and Carcinoid Tumors
NCT01619865PHASE1/PHASE2COMPLETEDSafety of 68Ga-DOTA-tyr3-Octreotide PET in Diagnosis of Solid Tumors
NCT01731925PHASE2UNKNOWNA Study of Sunitinib Versus Placebo in Combination With Lanreotide in Patients With Progressive Advanced/Metastatic Midgut Carcinoid Tumors
NCT01782443PHASE2COMPLETEDZiv-Aflibercept for Advanced Progressive Carcinoid Tumors
NCT02038738PHASE1/PHASE2UNKNOWN68Ga-DOTATATE PET Scan Imaging in Patients With Neuroendocrine Tumors
NCT02177773PHASE1/PHASE2TERMINATEDGA-68 DOTA-TOC of Somatostatin Positive Malignancies
NCT02399215PHASE2COMPLETEDNintedanib in Treating Patients With Locally Advanced or Metastatic Neuroendocrine Tumors
NCT02441062PHASE2COMPLETEDImpact of Ga-68 DOTATOC PET-CT Imaging in Management of Neuroendocrine Tumors
NCT02575300PHASE2COMPLETEDPhase II Study of Ibrutinib in Advanced Carcinoid and Pancreatic Neuroendocrine Tumors
NCT02795858PHASE2COMPLETEDA Phase II Study of Ramucirumab With Somatostatin Analog Therapy in Patients With Advanced, Progressive Carcinoid Tumors
NCT02859064PHASE2TERMINATEDStudy of Lanreotide in Patients With Metastatic Gastrointestinal Neuroendocrine Tumors Who Are Undergoing Liver-directed Radioembolization With Yttrium-90 Microspheres
NCT03420521PHASE2TERMINATEDNivolumab With Ipilimumab in Subjects With Neuroendocrine Tumors
NCT04039516PHASE2UNKNOWNCarcinoid Heart Disease and Peptide Receptor Radiotargetted Therapy
NCT04197310PHASE2COMPLETEDCabozantinib and Nivolumab for Carcinoid Tumors
NCT04915144PHASE2WITHDRAWN177Lu-DOTATOC for the Treatment of Patients With Somatostatin Receptor Positive NETs
NCT05361668PHASE2COMPLETEDStudy to Evaluate the Safety, PK, and Dose Response of Paltusotine in Subjects With Carcinoid Syndrome
NCT05987176PHASE2TERMINATEDComparison of Adjuvant Treatment With 177Lu-DOTATATE to Best Supportive Care in Patients After Resection of Neuroendocrine Liver Metastases
NCT07165132PHASE1RECRUITINGStudy of RYZ401 in Subjects With Solid Tumors Expressing SSTRs.

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
EDOTREOTIDE GALLIUM GA-6845
LANREOTIDE43
PASIREOTIDE43
LUTETIUM OXODOTREOTIDE LU-17742
OCTREOTIDE42
AXITINIB41
CABOZANTINIB41
EVEROLIMUS41
NINTEDANIB41
PERTUZUMAB41
PIFLUFOLASTAT F1841
RAMUCIRUMAB41
SUNITINIB41
PALTUSOTINE32
VELIPARIB32
ACTINIUM AC 225 DOTATATE31
DOMVANALIMAB31
GANITUMAB31
SOMATOSTATIN31
ZIMBERELIMAB31
CONATUMUMAB21
GALLIUM21
LUTETIUM LU177 EDOTREOTIDE21
QUARFLOXIN21
ZENIDOLOL21
CHEMBL335003702
CHEMBL421550102
CHEMBL484972102
EXELIXIS02
CHEMBL407987701