Head and neck neoplasm
diseaseOn this page
Also known as craniocervical region neoplasmcraniocervical region neoplasm (disease)craniocervical region tumorcraniocervical region tumourhead and neck neoplasm (excluding central nervous system)head and neck tumorhead and neck tumourneoplasm of craniocervical regionneoplasm of head and neckneoplasm of the head and necktumor of craniocervical regiontumor of head and necktumor of the head and necktumour of craniocervical regiontumour of head and necktumour of the head and neck
Summary
Head and neck neoplasm (MONDO:0005586) is a cancer (an umbrella term covering 37 Mondo subtypes) with 1 GWAS associations across 5 studies and 320 clinical trials. Top therapeutic interventions include cisplatin, afatinib, and docetaxel anhydrous. A subtype of neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Umbrella term: 37 Mondo subtypes
- GWAS associations: 1
- Clinical trials: 320
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | head and neck neoplasm |
| Mondo ID | MONDO:0005586 |
| EFO | EFO:0005950 |
| NCIT | C3077 |
| SNOMED CT | 255055008 |
| UMLS | C0018671 |
| MedGen | 6728 |
| Anatomy (UBERON) | UBERON:0007811 |
| Is cancer (heuristic) | yes |
Also known as: craniocervical region neoplasm · craniocervical region neoplasm (disease) · craniocervical region tumor · craniocervical region tumour · head and neck neoplasm · head and neck neoplasm (excluding central nervous system) · head and neck tumor · head and neck tumour · neoplasm of craniocervical region · neoplasm of head and neck · neoplasm of the head and neck · tumor of craniocervical region · tumor of head and neck · tumor of the head and neck · tumour of craniocervical region · tumour of head and neck · tumour of the head and neck
Data availability: 1 GWAS association (5 studies).
Disease family
This is a subtype of 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › head and neck neoplasm
Related subtypes (47): pre-malignant neoplasm, endocrine gland neoplasm, giant cell tumor, hematopoietic and lymphoid system neoplasm, skin neoplasm, mesenchymal cell neoplasm, epidural spinal canal neoplasm, skeletal muscle neoplasm, trophoblastic neoplasm, cancer, germ cell tumor, benign neoplasm, upper aerodigestive tract neoplasm, histiocytoma, embryonal neoplasm, epithelial neoplasm, reproductive system neoplasm, non-seminomatous lesion, odontogenic cyst, phosphaturic mesenchymal tumor, thyroglossal duct cyst, hamartoma, mesenchymoma, mesothelial neoplasm, peritoneal neoplasm, virus associated tumor, nail tumor, respiratory tract neoplasm, spindle cell neoplasm, mixed neoplasm, urinary system neoplasm, cystic neoplasm, childhood neoplasm, melanocytic neoplasm, digestive system neoplasm, nervous system neoplasm, neoplasm of thorax, connective tissue neoplasm, bronchial adenomas/carcinoids childhood, diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, erythroplakia, retroperitoneal neoplasm, cardiovascular neoplasm, dermoid or epidermoid cyst of the central nervous system, connective and soft tissue neoplasm, NTRK fusion positive cancer, RET fusion positive cancer
Subtypes (37): cranial nerve neoplasm, cavernous hemangioma of face, gasserian ganglion meningioma, nasal cavity neoplasm, palatal neoplasm, nasopharyngeal neoplasm, head and neck cancer, head and neck paraganglioma, nasal cavity and paranasal sinus lethal midline granuloma, familial thyroglossal duct cyst, laryngeal neuroendocrine neoplasm, laryngotracheal angioma, facial dermoid cyst, epignathus, nasal glial heterotopia, nasal ganglioglioma, malignant epithelial tumor of salivary glands, benign epithelial tumor of salivary glands, juvenile nasopharyngeal angiofibroma, recurrent respiratory papillomatosis, ocular adnexal lymphoma, gingival neoplasm, odontogenic neoplasm, eye neoplasm, ear neoplasm, tongue neoplasm, buccal mucosa neoplasm, lip neoplasm, tonsil neoplasm, neoplasm of neck, tumor of salivary gland, neoplasm of hypopharynx, neoplasm of oropharynx, neoplasm of floor of mouth, lipoma of face, skull neoplasm, nasal cavity and paranasal sinus neoplasm
Genetics & variants
GWAS landscape
1 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs138159156 | 2e-08 | RAPGEF5 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481719 | Verma A | 2024 | 9,195 | 426,115 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481718 | Verma A | 2024 | 3,000 | 113,391 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481717 | Verma A | 2024 | 1,163 | 56,794 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435852 | Zhou W | 2018 | 907 | 405,975 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90651522 | Liu TY | 2025 | 771 | 235,272 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
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 | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs138159156 | 7 | 22171893 | C>T | intron_variant | RAPGEF5 | 2e-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
Drugs indicated for this disease
3 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Cetuximab | Approved (phase 4) |
| Docetaxel Anhydrous | Approved (phase 4) |
| Temoporfin | Approved (phase 4) |
| Carboplatin | Phase 3 (in late-stage trials) |
| Cisplatin | Phase 3 (in late-stage trials) |
| Dostarlimab | Phase 3 (in late-stage trials) |
| Fluorouracil | Phase 3 (in late-stage trials) |
| Lapatinib | Phase 3 (in late-stage trials) |
| Pembrolizumab | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Atezolizumab, Belrestotug, Feladilimab.
Clinical trials & evidence
Clinical trials
Clinical trials: 320.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 154 |
| PHASE2 | 72 |
| PHASE1 | 32 |
| PHASE3 | 24 |
| PHASE1/PHASE2 | 22 |
| PHASE4 | 8 |
| PHASE2/PHASE3 | 5 |
| EARLY_PHASE1 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07158164 | PHASE4 | RECRUITING | DPYD Pharmacogenomics and Fluoropyrimidine (FP) Dose-Adjustment |
| NCT00138827 | PHASE4 | COMPLETED | Mouth Care Regimes During Radiotherapy |
| NCT00772681 | PHASE4 | COMPLETED | Efficacy of Chemoradiotherapy After Neoadjuvant Cisplatin and Docetaxel in the Nasopharynx Carcinoma |
| NCT00813631 | PHASE4 | UNKNOWN | The Effect on an Ionic Silver Dressing in Head and Neck Patients With Malignant Fungating Wound |
| NCT02015650 | PHASE4 | TERMINATED | Cetuximab Compared to Mitomycin-C and 5-Fluorouracil for Locally Advanced Squamous Cell Carcinomas of the Head and Neck |
| NCT02241876 | PHASE4 | UNKNOWN | THE USE OF N-ACETYLCYSTEINE ATTENUATING CISPLATIN-INDUCED TOXICITIES BY OXIDATIVE STRESS |
| NCT02597582 | PHASE4 | COMPLETED | LigaSure Small Jaw® Versus Conventional Neck Dissection in Head and Neck Cancer Patients |
| NCT02622880 | PHASE4 | COMPLETED | Comparison of Two Immunomodulatory Formulas on the Number of Postoperative Infections in Head & Neck Cancer Patients |
| NCT03765918 | PHASE3 | ACTIVE_NOT_RECRUITING | Study of Pembrolizumab Given Prior to Surgery and in Combination With Radiotherapy Given Post-surgery for Advanced Head and Neck Squamous Cell Carcinoma (MK-3475-689) |
| NCT03840421 | PHASE3 | ACTIVE_NOT_RECRUITING | GP Vs PF As Induction Chemotherapy Combined with CCRT for Locoregionally Advanced Nasopharyngeal Carcinoma |
| NCT05187091 | PHASE3 | RECRUITING | The SWOAR Trial Sparing of Swallowing and Aspiration Related Organs at Risk & Submandibular Gland With Intensity Modulated Radiotherapy Versus Standard IMRT in Head and Neck Squamous Cell Carcinomas |
| NCT06706401 | PHASE3 | RECRUITING | Lymphocyte-Sparing And Radio-Immunotherapy in Head and Neck Carcinoma |
| NCT06737822 | PHASE3 | RECRUITING | Upfront Surgery Vs Induction Chemotherapy Followed By Surgery In Oral Cancers: |
| NCT06998069 | PHASE3 | RECRUITING | Head and Neck Cancer Study Project in the Geriatric Population |
| NCT00050388 | PHASE3 | COMPLETED | Phase II Trial of Allovectin-7® for Head and Neck Cancer |
| NCT00094081 | PHASE3 | COMPLETED | Concomitant Radiation and Cisplatin With and Without Tirapazamine in Treatment of Advanced Head and Neck Cancer |
| NCT00123097 | PHASE3 | COMPLETED | Clinical Trial of New Elastomer for Maxillofacial Prosthetics |
| NCT00147862 | PHASE3 | COMPLETED | Does Tranexamic Acid Administration Reduce Blood Loss During Head and Neck Surgery? |
| NCT00248235 | PHASE2/PHASE3 | COMPLETED | Resistance Exercise Training for the Shoulder and Neck Following Surgery for Head and Neck Cancer |
| NCT00261703 | PHASE2/PHASE3 | COMPLETED | Docetaxel in Head and Neck Cancer |
| NCT00308880 | PHASE3 | UNKNOWN | Tranexamic Acid and Head and Neck Surgery Patients |
| NCT00363441 | PHASE2/PHASE3 | WITHDRAWN | A Study of Conventional 3D Radiation vs. Intensity-Modulated Radiation in Squamous Cell Cancer of the Head and Neck |
| NCT00401323 | PHASE2/PHASE3 | COMPLETED | Taxotere (Docetaxel) in 1st Line Treatment of Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma |
| NCT00412776 | PHASE2/PHASE3 | TERMINATED | Study of Proxinium Plus Best Supportive Care Versus Best Supportive Care for Patients With Advanced Head and Neck Cancer |
| NCT00415194 | PHASE3 | COMPLETED | A Study for Patients With Head and Neck Cancer |
| NCT00995293 | PHASE3 | COMPLETED | Taxotere (Docetaxel) New Indication: Squamous Cell Carcinoma of the Head and Neck (SCCHN) Treatment Registration Trial |
| NCT01345669 | PHASE3 | TERMINATED | LUX-Head&Neck 2: A Phase III Trial of Afatinib (BIBW 2992) Versus Placebo for the Treatment of Head and Neck Squamous Cell Cancer After Treatment With Chemo-radiotherapy |
| NCT01345682 | PHASE3 | COMPLETED | LUX-Head&Neck 1: A Phase III Trial of Afatinib (BIBW2992) Versus Methotrexate for the Treatment of Recurrent and/or Metastatic (R/M) Head and Neck Squamous Cell Cancer After Platinum Based Chemotherapy |
| NCT01856478 | PHASE3 | COMPLETED | LUX-Head&Neck 3: Afatinib (BIBW2992) Versus Methotrexate for the Treatment of Recurrent and/or Metastatic Head and Neck Squamous Cell Cancer After Platinum Based Chemotherapy |
| NCT02131155 | PHASE3 | TERMINATED | LUX-Head & Neck 4: Afatinib (BIBW 2992) Versus Placebo for the Treatment of Head and Neck Squamous Cell Cancer After Treatment With Chemo-radiotherapy |
| NCT02183246 | PHASE3 | TERMINATED | Porfiromycin Used as an Adjuvant to Radiation Therapy in Postoperative Head and Neck Cancer Patients |
| NCT02442375 | PHASE3 | COMPLETED | Uniform FDG-PET Guided Gradient Dose Prescription to Reduce Late Radiation Toxicity |
| NCT02630264 | PHASE3 | UNKNOWN | E10A for the Treatment of Squamous Cell Carcinoma of the Head and Neck |
| NCT02918955 | PHASE3 | COMPLETED | Definitive Chemo-Radiotherapy for Regionally Advanced Head and Neck Cancer With or Without Up-front Neck Dissection |
| NCT03040999 | PHASE3 | COMPLETED | Study of Pembrolizumab (MK-3475) or Placebo With Chemoradiation in Participants With Locally Advanced Head and Neck Squamous Cell Carcinoma (MK-3475-412/KEYNOTE-412) |
| NCT03837808 | PHASE3 | UNKNOWN | Radiotherapy Plus Concurrent Nimotuzumab or Cisplatin in Stage II-III Nasopharyngeal Carcinoma |
| NCT04222972 | PHASE3 | TERMINATED | A Study of Pralsetinib Versus Standard of Care for First-Line Treatment of Advanced Non-Small Cell Lung Cancer (NSCLC) |
| NCT02568267 | PHASE2 | ACTIVE_NOT_RECRUITING | Basket Study of Entrectinib (RXDX-101) for the Treatment of Patients With Solid Tumors Harboring NTRK 1/2/3 (Trk A/B/C), ROS1, or ALK Gene Rearrangements (Fusions) |
| NCT03691714 | PHASE2 | ACTIVE_NOT_RECRUITING | Durvalumab (MEDI4736) With Cetuximab in Previously Treated Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma |
| NCT05260671 | PHASE2 | RECRUITING | Penpulimab in Combination With Cetuximab as First-line Treatment in R/M SCCHN |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CISPLATIN | 4 | 30 |
| AFATINIB | 4 | 6 |
| DOCETAXEL ANHYDROUS | 4 | 6 |
| FLUOROURACIL | 4 | 2 |
| PEMBROLIZUMAB | 4 | 2 |
| PEMETREXED | 4 | 2 |
| PRALSETINIB | 4 | 2 |
| ACETYLCYSTEINE | 4 | 1 |
| CAPECITABINE | 4 | 1 |
| CETUXIMAB | 4 | 1 |
| CYANOCOBALAMIN | 4 | 1 |
| DACOMITINIB ANHYDROUS | 4 | 1 |
| FOSTAMATINIB DISODIUM | 4 | 1 |
| MITOMYCIN | 4 | 1 |
| TRETINOIN | 4 | 1 |
| OPORTUZUMAB MONATOX | 3 | 2 |
| PORFIROMYCIN | 3 | 2 |
| NIMOTUZUMAB | 3 | 1 |
| TIRAPAZAMINE | 3 | 1 |
| ZALUTUMUMAB | 3 | 1 |
| GOLNERMINOGENE PRADENOVEC | 2 | 2 |
| H11 SCFV | 2 | 2 |
| LAPACHONE | 2 | 1 |
| CHEMBL2347958 | 0 | 5 |
| CHEMBL4283673 | 0 | 5 |
| CHEMBL4759112 | 0 | 5 |
| CHEMBL4854670 | 0 | 4 |
| CHEMBL1510899 | 0 | 2 |
| CHEMBL4297597 | 0 | 2 |
| CHEMBL5435500 | 0 | 1 |