{"orpha":79140,"name":"Cutaneous neuroendocrine carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MCC","Merkel cell carcinoma"],"definition":"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).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79140/","orphanet_url":"https://www.orpha.net/en/disease/detail/79140","names":{"fr":{"name":"Carcinome neuroendocrine cutané","synonyms":["Carcinome à cellules de Merkel"],"definition":"Cancer rare et agressif de la peau, caractérisé par un nodule à croissance rapide présentant des caractéristiques épithéliales et neuroendocrines. Dans 80&nbsp;% des cas, il est dû au polyomavirus oncogène à cellules de Merkel (MCPyV)."},"de":{"name":"Karzinom, kutanes neuroendokrines","synonyms":["Merkelzell-Karzinom (MCC)"],"definition":"Ein seltener aggressiver Hautkrebs, der durch schnell wachsende Knötchen mit epithelialen und neuroendokrinen Merkmalen gekennzeichnet ist und in 80 % der Fälle durch das onkogene Merkelzell-Polyomavirus (MCPyV) ausgelöst wird."},"es":{"name":"Carcinoma neuroendocrino cutáneo","synonyms":["Carcinoma de células de Merkel (MCC)"],"definition":"Es un cáncer de piel poco frecuente y agresivo caracterizado por un nódulo de rápido crecimiento con características epiteliales y neuroendocrinas, provocado en el 80% de los casos por el poliomavirus de células de Merkel (PCM)."},"it":{"name":"Carcinoma cutaneo neuroendocrino","synonyms":["Carcinoma a cellule di Merkel (MCC)"]},"nl":{"name":"Cutaan neuro-endocrien carcinoom","synonyms":["MCC","Merkelcel-carcinoom"],"definition":"Een zeldzame agressieve huidkanker, gekenmerkt door een snel groeiende nodulus met zowel epitheliale als neuro-endocriene kenmerken, in 80% van de gevallen gedreven door oncogeen merkelcelpolyomavirus (MCPyV)."},"pt":{"name":"Carcinoma neuro-endócrino cutâneo","synonyms":["Carcinoma de células de Merkel"],"definition":"Cancro da pele agressivo e raro, caracterizado por um nódulo de crescimento rápido com características epiteliais e neuroendócrinas, causado em 80% dos casos pelo poliomavírus de células Merkel oncogénico (MCPyV)."},"pl":{"name":"Rak neuroendokrynny skóry","synonyms":["MCC","Rak z komórek Merkela"]},"cs":{"name":"Karcinom z Merkelových buněk","synonyms":["MCC","Kožní neuroendokrinní karcinom"]},"uk":{"name":"Шкірна нейроендокринна карцинома","synonyms":["MCC","Клітинна карцинома Меркеля"],"definition":"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)."},"zh":{"name":"皮肤神经内分泌癌","synonyms":["Merkel细胞癌"]},"tr":{"name":"Kutanöz nöroendokrin karsinom","synonyms":["MM","Merkel hücreli karsinom"]}},"xrefs":[{"source":"ICD-10","code":"C44.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C44.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C44.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C34","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"680322043"},{"source":"MONDO","code":"0019210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0007129","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9266","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":289635,"name":"Rare virus associated tumor","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.86,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Finland","status":"Not yet validated","source":"21729823[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"United States","status":"Validated","source":"33932460[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Denmark","status":"Validated","source":"20424236[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.378,"area":"France","status":"Validated","source":"12951176[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"16764197[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Australia","status":"Validated","source":"33932460[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"New Zealand","status":"Validated","source":"33932460[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Norway","status":"Validated","source":"33932460[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"28762116[PMID]_27198511[PMID]_26185585[PMID]_24094946[PMID]_19396152[PMID]_7825937[PMID]_7811116[PMID]_2427595[PMID]_5009611[PMID]","terms":[{"hpo":"HP:0030447","label":"Merkel cell skin cancer","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025475","label":"Erythematous macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011356","label":"Regional abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005526","label":"Lymphoid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040095","label":"Neoplasm of the outer ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Excluded (0%)","criteria":null}]}}