{"orpha":66661,"name":"Mast cell sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66661/","orphanet_url":"https://www.orpha.net/en/disease/detail/66661","names":{"fr":{"name":"Sarcome mastocytaire","definition":"Maladie néoplasique rare qui se caractérise par la croissance d'une masse solitaire localement destructrice composée de mastocytes atypiques, sans atteinte systémique. Elle peut toucher tout organe et les symptômes dépendent de la localisation. Les cellules sont de taille moyenne à grande, pléomorphes ou épithélioïdes, avec des noyaux ovales, bilobés ou multilobulés, et parfois des cellules géantes multinucléées proéminentes. La maladie ressemble beaucoup à d'autres néoplasies dont elle peut partager les marqueurs associés, mais la tumeur montre une expression de tryptase mastocytaire."},"de":{"name":"Mastzellsarkom"},"es":{"name":"Sarcoma de mastocitos","definition":"Es una enfermedad neoplásica poco frecuente caracterizada por el crecimiento de una masa solitaria similar a un sarcoma localmente agresivo, compuesta de mastocitos atípicos y sin afectación sistémica. Puede afectar a cualquier órgano y los síntomas dependen de la localización. Las células varían de medianas a grandes, pleomórficas o epitelioides, con núcleos ovalados, bilobulados o multilobulados y, en ocasiones, son células gigantes multinucleadas prominentes. La enfermedad es muy similar a otras neoplasias y puede compartir marcadores asociados, aunque el tumor es positivo para la triptasa de mastocitos."},"it":{"name":"Sarcoma mastocitico","definition":"Il sarcoma mastocitico è una neoplasia rara cha consiste in una massa solitaria, localmente distruttiva, che presenta una crescita simile a quella di un sarcoma, composta da mastociti atipici, senza interessamento sistemico. Può colpire tutti gli organi e i sintomi dipendono dalla sua localizzazione. Le cellule sono medio-grandi, pleomorfe o epitelioidi, con nuclei ovali, bilobati o multilobati; occasionalmente le cellule sono giganti, multinucleate e prominenti. La malattia è simile ad altre neoplasie e può associarsi agli stessi marcatori, ma si differenzia per la positività alla triptasi mastocitaria."},"nl":{"name":"Mestcelsarcoom","definition":"Mestcelsarcoom is een zeldzame, neoplastische ziekte die gekarakteriseerd wordt door lokaal destructieve sarcoom-achtige groei van een solitaire massa bestaande uit atypische mestcellen, zonder systemische betrokkenheid. Het kan eender welk orgaan treffen en de symptomen hangen af van de locatie. Cellen zijn middelgroot tot groot, pleomorf of epithelioïd, met ovale, bi- of multilobaire kernen, en soms prominente meerkernige reuscellen. De ziekte lijkt sterk op andere neoplasmata en kan geassocieerde merkers delen, hoewel de tumor positief is voor tryptase uit mestcellen."},"pt":{"name":"Sarcoma de mastócitos"},"pl":{"name":"Mięsak mastocytarny","definition":"*Mięsak mastocytarny jest rzadką chorobą nowotworową, która charakteryzuje się miejscowo uszkadzającym mięsakopodobnym wzrostem pojedynczej masy, złożonej z atypowych komórek tucznych, bez zajęcia innych układów. Może wystąpić w każdym narządzie, a objawy zależą od jego lokalizacji. Komórki są średnie do dużych, pleomorficzne lub epitelioidalne, z owalnymi, dwupłatowymi lub wielopłatowymi jądrami, niekiedy występują wielojądrzaste komórki olbrzymie. Choroba blisko przypomina inne nowotwory i może mieć wspólne z nimi markery, jednak guz ten wykazuje ekspresję tryptazy, charakterystycznej dla komórek tucznych."},"cs":{"name":"Mastocytární sarkom"},"uk":{"name":"Саркома з тучних клітин","definition":"Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase."},"zh":{"name":"肥大细胞肉瘤"},"tr":{"name":"Mast hücre sarkomu"}},"xrefs":[{"source":"ICD-10","code":"C96.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A21.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"233404891"},{"source":"MONDO","code":"0019024","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98292,"name":"Mastocytosis","classifications":[194,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Europe","status":"Validated","source":"26447996[PMID]_27602777[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100495","label":"Mastocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}