ORPHA:79140
Cutaneous neuroendocrine carcinoma
Synonyms: MCC · Merkel cell carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutaneous neuroendocrine carcinoma | MCC · Merkel cell carcinoma |
| fr | Carcinome neuroendocrine cutané | Carcinome à cellules de Merkel |
| de | Karzinom, kutanes neuroendokrines | Merkelzell-Karzinom (MCC) |
| es | Carcinoma neuroendocrino cutáneo | Carcinoma de células de Merkel (MCC) |
| it | Carcinoma cutaneo neuroendocrino | Carcinoma a cellule di Merkel (MCC) |
| nl | Cutaan neuro-endocrien carcinoom | MCC · Merkelcel-carcinoom |
| pt | Carcinoma neuro-endócrino cutâneo | Carcinoma de células de Merkel |
| pl | Rak neuroendokrynny skóry | MCC · Rak z komórek Merkela |
| cs | Karcinom z Merkelových buněk | MCC · Kožní neuroendokrinní karcinom |
| uk | Шкірна нейроендокринна карцинома | MCC · Клітинна карцинома Меркеля |
| zh | 皮肤神经内分泌癌 | Merkel细胞癌 |
| tr | Kutanöz nöroendokrin karsinom | MM · Merkel hücreli karsinom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C44.3 | NTBT | attributed | validated |
| ICD-10 | C44.6 | NTBT | attributed | validated |
| ICD-10 | C44.7 | NTBT | attributed | validated |
| ICD-11 | 2C34 | E | specific | validated |
| MONDO | 0019210 | E | validated | |
| UMLS | C0007129 | E | validated | |
| GARD | 9266 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:100101Neuroendocrine tumor with other location
rare endocrine diseases; rare neoplastic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:289635Rare virus associated tumor
rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.27 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.86 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | Finland | Value and class | Not yet validated | 21729823[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.7 / 100 000 | United States | Value and class | Validated | 33932460[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.22 / 100 000 | Denmark | Value and class | Validated | 20424236[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.378 / 100 000 | France | Value and class | Validated | 12951176[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 16764197[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.8 / 100 000 | Australia | Value and class | Validated | 33932460[PMID] |
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | New Zealand | Value and class | Validated | 33932460[PMID] |
| Annual incidence | 1-9 / 100 000 | 4 / 100 000 | Norway | Value and class | Validated | 33932460[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2017-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030447 | Merkel cell skin cancer | |
| Frequent (79-30%) | ||
| HP:0005374 | Cellular immunodeficiency | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0025475 | Erythematous macule | |
| HP:0025474 | Erythematous plaque | |
| HP:0011356 | Regional abnormality of skin | |
| HP:0200036 | Skin nodule | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0100570 | Carcinoid tumor | |
| HP:0005526 | Lymphoid leukemia | |
| HP:0006775 | Multiple myeloma | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
| Very rare (<4-1%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0030692 | Brain neoplasm | |
| HP:0040095 | Neoplasm of the outer ear | |
| Excluded (0%) | ||
| HP:0012531 | Pain | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28762116[PMID]_27198511[PMID]_26185585[PMID]_24094946[PMID]_19396152[PMID]_7825937[PMID]_7811116[PMID]_2427595[PMID]_5009611[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79140
- This record as JSON: /data/d/79140.json