Respiratory tract neoplasm
diseaseOn this page
Also known as neoplasm of respiratory tractneoplasm of the respiratory tractneoplasm, respiratory tractneoplasms, respiratory tractrespiratory system neoplasmrespiratory tract tumorrespiratory tract tumourtract neoplasm, respiratorytract neoplasms, respiratorytumor of respiratory tracttumor of the respiratory tracttumour of respiratory tracttumour of the respiratory tract
Summary
Respiratory tract neoplasm (MONDO:0020641) is a cancer (an umbrella term covering 8 Mondo subtypes) with 2 GWAS associations across 9 studies and 26 clinical trials. Top therapeutic interventions include carboplatin, pemetrexed, and pralsetinib. 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: 8 Mondo subtypes
- GWAS associations: 2
- Clinical trials: 26
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | respiratory tract neoplasm |
| Mondo ID | MONDO:0020641 |
| EFO | EFO:0003853 |
| MeSH | D012142 |
| ICD-10-CM | C30-C39 |
| NCIT | C3355 |
| SNOMED CT | 126667002 |
| UMLS | C0035244 |
| MedGen | 11200 |
| Anatomy (UBERON) | UBERON:0000065 |
| Is cancer (heuristic) | yes |
Also known as: neoplasm of respiratory tract · neoplasm of the respiratory tract · neoplasm, respiratory tract · neoplasms, respiratory tract · respiratory system neoplasm · respiratory tract neoplasm · respiratory tract tumor · respiratory tract tumour · tract neoplasm, respiratory · tract neoplasms, respiratory · tumor of respiratory tract · tumor of the respiratory tract · tumour of respiratory tract · tumour of the respiratory tract
Data availability: 2 GWAS associations (9 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 › respiratory tract 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, head and neck 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, 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 (8): bronchial neoplasm, nasal cavity neoplasm, nasopharyngeal neoplasm, SMARCA4-deficient sarcoma of thorax, pleural neoplasm, laryngeal neoplasm, lung neoplasm, trachea neoplasm
Genetics & variants
GWAS landscape
2 GWAS associations across 9 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1049068 | 6e-14 | HLA-DQB1 | C | 0.37 |
| rs3806034 | 4e-07 | COL19A1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477170 | Verma A | 2024 | 5,329 | 444,093 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652116 | Liu TY | 2025 | 4,068 | 229,758 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90477169 | Verma A | 2024 | 1,039 | 120,484 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479779 | Verma A | 2024 | 1,039 | 120,484 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90041882 | Jiang L | 2021 | 1,006 | 455,342 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90435572 | Zhou W | 2018 | 628 | 406,821 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90481479 | Verma A | 2024 | 352 | 59,422 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90042865 | Jiang L | 2021 | 349 | 455,999 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90246044 | Walters RG | 2023 | 113 | 75,761 | Genotyping and population characteristics of the China Kadoorie Biobank. |
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 | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| synonymous_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1049068 | 6 | 32665000 | C>A,T | 0.104 | synonymous_variant | HLA-DQB1 | 6e-14 | Tier 4: intronic/intergenic |
| rs3806034 | 6 | 70118964 | G>C | 0.05 | intron_variant | COL19A1 | 4e-07 | 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
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alectinib.
Clinical trials & evidence
Clinical trials
Clinical trials: 26.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 8 |
| PHASE2 | 7 |
| PHASE1 | 6 |
| PHASE3 | 3 |
| PHASE1/PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03134872 | PHASE3 | COMPLETED | A Study of SHR-1210 in Combination With Pemetrexed and Carboplatin in Subjects With Non-squamous NSCLC |
| NCT03402048 | PHASE3 | UNKNOWN | The EPIC Trial The Elderly Patient Individualized Chemotherapy Trial |
| NCT04222972 | PHASE3 | TERMINATED | A Study of Pralsetinib Versus Standard of Care for First-Line Treatment of Advanced Non-Small Cell Lung Cancer (NSCLC) |
| NCT04776447 | PHASE2 | ACTIVE_NOT_RECRUITING | Atezolizumab Plus Induction Chemotherapy Plus CT-radiotherapy. (APOLO) |
| NCT06177925 | PHASE2 | RECRUITING | A Phase Ⅱ Clinical Study of Adebrelimab Combined With Chemotherapy and Concurrent Radiotherapy for Extensive-Stage Oligometastatic SCLC |
| NCT06917573 | PHASE2 | RECRUITING | PALACE: Cemiplimab Trial According to ctDNA Levels |
| NCT07242547 | PHASE2 | RECRUITING | Study of Tarlatamab as Maintenance Treatment After Chemo-radiotherapy for Limited Stage SCLC Patients |
| NCT07247786 | PHASE2 | NOT_YET_RECRUITING | Study for Evaluating the Safety and Feasibility of Fecal Microbiota Transplant in Stage II-III NSCLC Patients Using ICI Responders as Donors (MIGRANT) |
| NCT00990535 | PHASE2 | COMPLETED | High Dose Somatostatin Analogues in Neuroendocrine Tumors |
| NCT01039948 | PHASE1/PHASE2 | COMPLETED | A Phase 1b/2 Study in Asian Subjects With Non-Small Cell Lung Cancer |
| 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 |
| NCT04644315 | PHASE2 | TERMINATED | A Home-Based Approach Study to Evaluate the Efficacy and Safety of Alectinib in Locally-Advanced or Metastatic ALK-Positive Solid Tumors |
| NCT02602067 | PHASE1 | TERMINATED | 131Iodine-Tenatumomab Treatment in Tenascin-C Positive Cancer Patients |
| NCT02897778 | PHASE1 | COMPLETED | Cardiac Safety Study of Entinostat in Men and Women With Advanced Solid Tumors |
| NCT02909452 | PHASE1 | COMPLETED | Continuation Study of Entinostat in Combination With Pembrolizumab in Patients With Advanced Solid Tumors |
| NCT04862780 | PHASE1 | TERMINATED | (SYMPHONY) Phase 1/2 Study Targeting EGFR Resistance Mechanisms in NSCLC |
| NCT05153408 | PHASE1 | TERMINATED | (HARMONY) Study of BLU-701 in EGFR-mutant NSCLC |
| NCT05241873 | PHASE1 | TERMINATED | (Concerto) Study of BLU-451 in Advanced Cancers With EGFR Exon 20 Insertion Mutations |
| NCT06004440 | Not specified | ACTIVE_NOT_RECRUITING | Real World Registry for Use of the Ion Endoluminal System |
| NCT06376084 | Not specified | ACTIVE_NOT_RECRUITING | Osimertinib With Chemotherapy as First-line Therapy for EGFR Mutation-positive NSCLC |
| NCT06494241 | Not specified | ACTIVE_NOT_RECRUITING | Small/Middle Tier Cities and County Lung Cancer Quality Improvement Project (QIP) Study |
| NCT06988943 | Not specified | RECRUITING | Early Intervention Strategies for Lung Cancer |
| NCT02431962 | Not specified | UNKNOWN | Alberta Lung Cancer Screening Program |
| NCT02871856 | Not specified | UNKNOWN | International Lung Screen Trial (ILST) |
| NCT04697446 | Not specified | UNKNOWN | External Control, Observational, Retrospective Study Comparing Pralsetinib to Best Available Therapy in Patients With RET-Fusion Positive NSCLC |
| NCT06841874 | Not specified | NO_LONGER_AVAILABLE | Expanded Access Program of Taletrectinib in Patients With Advanced or Metastatic ROS1-Positive NSCLC |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CARBOPLATIN | 4 | 8 |
| PEMETREXED | 4 | 3 |
| PRALSETINIB | 4 | 2 |
| ALECTINIB | 4 | 1 |
| TARLATAMAB | 4 | 1 |
| VINORELBINE | 4 | 1 |
| ENTINOSTAT | 3 | 2 |
| ADEBRELIMAB | 3 | 1 |
| CAMRELIZUMAB | 3 | 1 |
| FICLATUZUMAB | 3 | 1 |
| PEBEZERTINIB | 2 | 1 |
| TALETRECTINIB | 2 | 1 |
| TIGOZERTINIB | 2 | 1 |
| CHEMBL4297597 | 0 | 2 |