Thymic neuroendocrine tumor
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thymic neuroendocrine tumor | |
| fr | Tumeur neuroendocrine thymique | Tumeur neuroendocrine du thymus |
| de | Neuroendokriner Tumor des Thymus | NET des Thymus · Thymustumor, neuroendokriner |
| es | Tumor neuroendocrino tímico | |
| it | Tumore endocrino del timo | Tumore carcinoide del timo · Tumore neuroendocrino del timo |
| nl | Neuro-endocriene tumor van thymus | Neuro-endocriene thymustumor |
| pt | Tumor endócrino do timo | |
| pl | Guz neuroendokrynny grasicy | |
| cs | Endokrinní nádor brzlíku | Karcinoid brzlíku · Neuroendokrinní nádor brzlíku |
| uk | Нейроендокринна пухлина вилочкової залози | |
| zh | 胸腺神经内分泌癌 | |
| tr | Timik nöroendokrin tümör |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C37 | NTBT | attributed | validated |
| ICD-11 | 2C27.1 | NTBT | index | validated |
| MONDO | 0019964 | E | validated | |
| UMLS | C1336746 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:100101Neuroendocrine tumor with other location
rare endocrine diseases; rare neoplastic diseases - ORPHA:100100Thymic tumor
rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
24 annotations · validated 2017-09-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100521 | Neoplasm of the thymus | |
| HP:0100634 | Neuroendocrine neoplasm | |
| Very frequent (99-80%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| Frequent (79-30%) | ||
| HP:0030829 | Abnormal breath sound | |
| HP:0005345 | Abnormal vena cava morphology | |
| HP:0100570 | Carcinoid tumor | |
| HP:0100749 | Chest pain | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0012735 | Cough | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0100568 | Neoplasm of the endocrine system | |
| HP:0007457 | Prominent veins on trunk | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0004724 | Calcium nephrolithiasis | |
| HP:0003072 | Hypercalcemia | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0000938 | Osteopenia | |
| HP:0008261 | Pancreatic islet cell adenoma | |
| HP:0002893 | Pituitary adenoma | |
| HP:0011761 | Pituitary null cell adenoma | |
| HP:0006767 | Pituitary prolactin cell adenoma | |
| HP:0008200 | Primary hyperparathyroidism | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22525409[PMID]_6271390[PMID]_10086551[PMID]_26317915[PMID]_27785065[PMID]_28451004[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97289
- This record as JSON: /data/d/97289.json