Thyroid tumor

Summary

Thyroid tumor (MONDO:0015074) is a cancer (an umbrella term covering 5 Mondo subtypes) with 1 cohort gene and 184 clinical trials. Top therapeutic interventions include liothyronine, lenvatinib, and pralsetinib.

At a glance

• Classification: Cancer
• Prevalence: 1-9 / 100 000 (Worldwide)
• Umbrella term: 5 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 184

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	3.2	Worldwide	Not yet validated
Annual incidence	1-9 / 100 000	5	Europe	Not yet validated
Annual incidence	1-9 / 100 000	5.7	Italy	Not yet validated
Annual incidence	1-9 / 100 000	5.35	France	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	thyroid tumor
Mondo ID	MONDO:0015074
EFO	EFO:0003841
Orphanet	100087
NCIT	C3414
SNOMED CT	127018007
UMLS	C0040136
MedGen	21546
GARD	0019762
Anatomy (UBERON)	UBERON:0002046
Is cancer (heuristic)	yes

Also known as: neoplasm of the thyroid · neoplasm of the thyroid gland · neoplasm of thyroid · neoplasm of thyroid gland · THYROID · thyroid gland neoplasm · thyroid gland neoplasm (disease) · thyroid gland tumor · thyroid gland tumour · thyroid neoplasm · thyroid neoplasms · thyroid tumor · tumor of the thyroid · tumor of the thyroid gland · tumor of thyroid · tumor of thyroid gland · tumour of the thyroid · tumour of the thyroid gland · tumour of thyroid · tumour of thyroid gland

Data availability: 1 ClinVar variant.

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 › endocrine gland neoplasm › thyroid tumor

Related subtypes (13): benign endocrine neoplasm, thymus neoplasm, granulosa cell tumor, pituitary tumor, familial tumoral calcinosis, neuroendocrine neoplasm, malignant endocrine neoplasm, non-functioning endocrine neoplasm, functioning endocrine neoplasm, adrenal gland neoplasm, pineal body neoplasm, tumor of parathyroid gland, liver and intrahepatic bile duct neoplasm

Subtypes (5): thyroid cancer, thyroid hyalinizing trabecular adenoma, TSH producing pituitary tumor, benign thyroid gland neoplasm, familial thyroglossal duct cyst

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1344808	NM_018180.3(DHX32):c.798T>G (p.Ile266Met)	DHX32	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
DHX32	HGNC:16717	ENSG00000089876	Q7L7V1	Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32	clinvar

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)
DHX32	Other/Unknown	no		Helicase-assoc_dom, DEAD-box_helicase_OB_fold, Helicase_ATP-bd

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
esophagus squamous epithelium	1
nasal cavity epithelium	1
tongue squamous epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DHX32	289	ubiquitous	marker	nasal cavity epithelium, esophagus squamous epithelium, tongue squamous epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DHX32	2,535

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DHX32	Q7L7V1	86.34

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

Therapeutics

Drugs indicated for this disease

3 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Selpercatinib	Approved (phase 4)
Thyrotropin Alfa	Approved (phase 4)
Vandetanib	Approved (phase 4)
Iodine	Phase 3 (in late-stage trials)
Sorafenib	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alectinib, Axitinib, Lenalidomide, Ponatinib, Valproic Acid.

Drug target analysis

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

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
DHX32	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
DHX32	1	Binding: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

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	DHX32

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)
DHX32	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 184.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	138
PHASE2	21
PHASE4	8
PHASE3	6
PHASE2/PHASE3	5
PHASE1	3
PHASE1/PHASE2	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07010393	PHASE4	NOT_YET_RECRUITING	Genotype-Driven Neoadjuvant Therapy for Locally Advanced Thyroid Cancer: A Real-World Cohort Study
NCT00001730	PHASE4	COMPLETED	Study of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal.
NCT00385983	PHASE4	UNKNOWN	Total Thyroidectomy With Harmonic Scalpel®
NCT00400465	PHASE4	COMPLETED	Is the Routine Pressure Dressing After Thyroidectomy Necessary?
NCT01308320	PHASE4	COMPLETED	Dose-dependent Effect of Fentanyl on Cough Attenuation During Emergence From General Anaesthesia
NCT03469310	PHASE4	COMPLETED	Minimizing Narcotic Analgesics After Endocrine Surgery
NCT03573960	PHASE4	COMPLETED	A Study to Evaluate the Safety and Efficacy of Lenvatinib in Participants With Refractory Differentiated Thyroid Cancer
NCT04574947	PHASE4	COMPLETED	Lidocaine And Neuromonitoring in Thyroid Surgery
NCT01398085	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	IoN- Is Ablative Radio-iodine Necessary for Low Risk Differentiated Thyroid Cancer Patients
NCT07434206	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Dexmedetomidine in Controlling Hemodynamics During Resection of Active Thyroid Secreting Tumors
NCT00115895	PHASE3	UNKNOWN	The Dose of Radioactive Iodine Needed to Ablate the Thyroid Remnant Left Behind After Thyroidectomy
NCT00123760	PHASE2/PHASE3	COMPLETED	Study of 18F-Fluorodeoxyglucose (FluGlucoScan) in Patients With Cancer or Suspected Cancer
NCT00144079	PHASE3	COMPLETED	Multicenter Study Differentiated Thyroid Carcinoma
NCT00196729	PHASE3	COMPLETED	Comparison of the Safety and Successful Ablation of Thyroid Remnant in Post-thyroidectomized Euthyroid Patients (i.e. Patients Administered Thyrogen) Versus Hypothyroid Patients (no Thyrogen) Following 131I Administration
NCT00984282	PHASE3	COMPLETED	Nexavar® Versus Placebo in Locally Advanced/Metastatic RAI-Refractory Differentiated Thyroid Cancer
NCT01137097	PHASE2/PHASE3	COMPLETED	Lateral Neck Sentinel Lymph Node Biopsy(LSLNB)in PTC
NCT01551914	PHASE3	UNKNOWN	Medico-economic Evaluation Comparing the Use of Ultrasonic Scissors to the Conventional Techniques of Haemostasis in Thyroid Surgery by Cervicotomy
NCT02112370	PHASE3	COMPLETED	Efficacy of Ropivacaine (With Epinephrine) in BABA Endoscopic and Robotic Thyroidectomy
NCT02418247	PHASE2/PHASE3	UNKNOWN	Minimize Radioactive Iodine Ablation Of Remnant Thyroid in Differentiated Thyroid Cancer
NCT04115514	PHASE2	ACTIVE_NOT_RECRUITING	Treatment of ARDS With Instilled T3
NCT04623801	PHASE2	ACTIVE_NOT_RECRUITING	Laser Ablation of Papillary Thyroid Microcarcinoma
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT00094055	PHASE2	COMPLETED	Study of the Anti-angiogenesis Agent AG-013736 in Patients With Metastatic Thyroid Cancer
NCT00279721	PHASE2	COMPLETED	Phase II Study of IMRT With SIB as Adjuvant Treatment for High Risk Resected Well-differentiated Thyroid Cancer.
NCT00287287	PHASE2	COMPLETED	REVLIMID® (Lenalidomide) for Therapy of Radioiodine-Unresponsive Papillary and Follicular Thyroid Carcinomas
NCT00389441	PHASE2	COMPLETED	Study Of AG-013736 In Patients With 131I-Refractory Thyroid Cancer
NCT00467506	PHASE2	COMPLETED	Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma
NCT00537095	PHASE2	COMPLETED	Efficacy and Safety of Vandetanib (ZD6474) in Patients With Metastatic Papillary or Follicular Thyroid Cancer
NCT00647140	PHASE2	TERMINATED	Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer
NCT00804830	PHASE2	TERMINATED	Avastin and Doxorubicin Postoperatively for Patients With Anaplastic Thyroid Cancer
NCT01182285	PHASE2	COMPLETED	A Phase II Trial of Valproic Acid in Patients With Advanced Thyroid Cancers of Follicular Cell Origin
NCT01396733	PHASE2	WITHDRAWN	Redifferentiation Therapy Using Alpha Lipoic Acid in Thyroid Cancer
NCT01747512	PHASE2	WITHDRAWN	An Imaging Study in Patients With Thyroid Cancer or Head and Neck Cancer With Pertechnetate Made in a Cyclotron (C-PERT)
NCT01838642	PHASE2	TERMINATED	Ponatinib for Advanced Medullary Thyroid Cancer
NCT03002623	PHASE2	TERMINATED	CUDC-907 Treatment in People With Metastatic and Locally Advanced Thyroid Cancer
NCT03012620	PHASE2	COMPLETED	Secured Access to Pembrolizumab for Patients With Selected Rare Cancer Types
NCT03037385	PHASE1/PHASE2	COMPLETED	Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors
NCT03109847	PHASE2	TERMINATED	Metformin to Mitigate Sequelae of Radioactive Iodine Treatment for Thyroid Cancers
NCT04180007	PHASE2	UNKNOWN	Study of Neoadjuvant Regimen for Radioactive Iodine Treatment of Metastatic and Advanced Differentiated Thyroid Cancers
NCT04420689	PHASE1/PHASE2	COMPLETED	Bevonescein to Highlight Nerves in Patients Undergoing Head & Neck Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LIOTHYRONINE	4	3
LENVATINIB	4	2
PRALSETINIB	4	2
THYROTROPIN ALFA	4	2
ALECTINIB	4	1
AXITINIB	4	1
CABOZANTINIB	4	1
DABRAFENIB	4	1
FENTANYL CITRATE	4	1
LAROTRECTINIB	4	1
METFORMIN	4	1
PEMBROLIZUMAB	4	1
PONATINIB	4	1
SELPERCATINIB	4	1
SODIUM CHLORIDE	4	1
TRAMADOL	4	1
TRAMETINIB	4	1
VALPROIC ACID	4	1
VANDETANIB	4	1
IODINE	3	3
BEVONESCEIN	3	1
CATEQUENTINIB	3	1
SINTILIMAB	3	1
FIMEPINOSTAT	2	1
TECHNETIUM TC-99M PERTECHNETATE	1	1
CHEMBL4297597	0	2
CHEMBL4059722	0	1
CHEMBL3892335	0	1
CHEMBL4215501	0	1
CHEMBL4849721	0	1