{"orpha":66627,"name":"Tenosynovial giant cell tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse-type GCT","Diffuse-type giant cell tumor","TGCT","TSGCT"],"definition":"A rare soft tissue tumor characterized by lesions predominantly originating from the synovial tissue of joints, tendon sheaths, or bursa. They are typically benign tumors that can either be localized or diffused. Localized tumors are usually painless, firm and slow growing, detected mostly in the fingers and hand (can also be present in wrist, foot or ankle), and patients are asymptomatic. Diffuse-type tumors are more aggressive and often involve large joints (knee, hip, ankle and shoulder). Symptoms may include joint pain, tenderness, swelling, limitation of motion and hemorrhagic joint effusions. Some localized tumors may recur, however they are usually non-destructive. Recurrences are more common in diffused tumors and can lead to joint instability, degenerative joint disease and significant functional impairment. Rare cases with malignant transformation, presenting as aggressive sarcomas leading to local destruction and metastasis to lymph nodes (particularly inguinal and pelvic) and lungs are also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66627/","orphanet_url":"https://www.orpha.net/en/disease/detail/66627","names":{"fr":{"name":"Tumeur ténosynoviale à cellules géantes","synonyms":["Ténosynovite villonodulaire pigmentée","BVNP","Bursite villonodulaire hémopigmentée","Bursite villonodulaire pigmentée","SVNP","Synovialome bénin à cellules géantes","Synovite villeuse pigmentée","Synovite villonodulaire hémopigmentée","Synovite villonodulaire pigmentée","TGCCP","Tumeur à cellules géantes des parties molles","Ténosynovite villonodulaire hémopigmentée"],"definition":"Tumeur rare des tissus mous caractérisée par des lésions prenant principalement naissance dans le tissu synovial des articulations, des gaines des tendons ou des bourses. Il s'agit généralement de tumeurs bénignes, localisées ou diffuses. Les tumeurs localisées sont généralement indolores, fermes et à croissance lente, affectant essentiellement les doigts et la main (mais peuvent également affecter le poignet, le pied ou la cheville), les patients étant asymptomatiques. Les tumeurs de type diffus sont plus agressives et touchent souvent les grosses articulations (genou, hanche, cheville et épaule). Les symptômes peuvent inclure des douleurs articulaires, une sensibilité, un gonflement, une limitation des mouvements et des hémarthroses. Certaines tumeurs localisées peuvent récidiver, mais ne provoquent généralement pas de destruction. Les récidives sont plus fréquentes en cas de tumeurs diffuses qui peuvent entraîner une instabilité articulaire, une maladie dégénérative des articulations et un handicap fonctionnel important. De rares cas de transformation maligne, se manifestant par des sarcomes agressifs entraînant une destruction locale et des métastases aux ganglions lymphatiques (en particulier inguinaux et pelviens) et aux poumons, sont également rapportés."},"de":{"name":"Tenosynovialer Riesenzelltumor","synonyms":["Diffuser Riesenzelltumor","GCTTS","TSGCT","TSRZT"],"definition":"Ein seltener Weichteiltumor, der durch Läsionen gekennzeichnet ist, die vorwiegend aus dem Synovialgewebe von Gelenken, Sehnenscheiden oder Schleimbeuteln stammen. Es handelt sich in der Regel um gutartige Tumore, die entweder lokalisiert oder diffus sein können. Lokalisierte Tumoren sind in der Regel schmerzlos, fest und langsam wachsend, werden meist in den Fingern und der Hand entdeckt (können auch im Handgelenk, Fuß oder Knöchel vorkommen), und die Patienten sind asymptomatisch. Diffuse Tumoren sind aggressiver und betreffen häufig große Gelenke (Knie, Hüfte, Knöchel und Schulter). Zu den Symptomen gehören Gelenkschmerzen, Druckempfindlichkeit, Schwellungen, Bewegungseinschränkungen und hämorrhagische Gelenkergüsse. Einige lokalisierte Tumore können wiederkehren, sind aber in der Regel nicht zerstörerisch. Rezidive treten häufiger bei diffusen Tumoren auf und können zu Gelenkinstabilität, degenerativen Gelenkerkrankungen und erheblichen Funktionseinschränkungen führen. Seltene Fälle mit maligner Transformation, die sich als aggressive Sarkome präsentieren und zu lokaler Zerstörung und Metastasierung in Lymphknoten (insbesondere Leisten- und Beckenlymphknoten) und Lunge führen, werden ebenfalls berichtet."},"es":{"name":"Tumor tenosinovial de células gigantes","synonyms":["TCGT","TCG tipo difuso","Tumor de células gigantes tenosinovial","Tumor de células gigantes tipo difuso"],"definition":"Es un tumor poco frecuente de tejidos blandos caracterizado por lesiones que se originan predominantemente en el tejido sinovial de las articulaciones, las vainas tendinosas o la bursa. Suelen ser tumores benignos, localizados o difusos. Los tumores localizados suelen ser indoloros, firmes y de crecimiento lento, y se detectan principalmente en los dedos y en la mano (también pueden presentarse en la muñeca, el pie o el tobillo). Los pacientes permanecen asintomáticos. Los tumores difusos son más agresivos y suelen afectar a las grandes articulaciones (rodilla, cadera, tobillo y hombro). Los síntomas pueden incluir dolor articular, sensibilidad, inflamación, limitación del movimiento y derrames articulares hemorrágicos. Algunos tumores localizados pueden recidivar, aunque por lo general no son destructivos. Las recidivas son más frecuentes en los tumores difusos y pueden provocar inestabilidad articular, enfermedad articular degenerativa y afectación funcional significativa. Excepcionalmente se han descrito casos de transformación maligna que se presentan como sarcomas agresivos que provocan destrucción local y metástasis en ganglios linfáticos (en particular, inguinales y pélvicos) y pulmones."},"it":{"name":"Tumore tenosinoviale a cellule giganti","synonyms":["GCT tipo diffuso","TGCT","TSGCT","Tumore a cellule giganti tipo diffuso"],"definition":"La sinovite villonodulare pigmentata (PVNS) è una malattia proliferativa rara benigna della membrana sinoviale, che colpisce perlopiù i giovani adulti (con un picco di insorgenza tra la seconda e la quarta decade di vita). È caratterizzata da lesioni simil-tumorali proliferative e localmente invasive, che di solito interessano una sola articolazione, una guaina tendinea o una borsa (perlopiù sono interessate le articolazioni del ginocchio e dell'anca, mentre è raro l'interessamento delle articolazioni della caviglia, della spalla e delle articolazioni temporo-mandibolari). La malattia esordisce con dolore e limitazione dei movimenti, associata a gonfiore, calore e dolorabilità dell'articolazione interessata; se non trattata esita nella degenerazione artritica associata a deficit motori significativi. La PVNS può recidivare anche in pazienti trattati."},"nl":{"name":"Tenosynoviale reusceltumor","synonyms":["Diffuus type GCT","Diffuus type reusceltumor","TGCT","TSGCT"],"definition":"Een zeldzame tumor van weke delen, gekenmerkt door laesies die hoofdzakelijk afkomstig zijn van synoviaal weefsel van gewrichten, peesscheden, of slijmbeurzen. Het zijn doorgaans goedaardige tumors die ofwel gelokaliseerd ofwel verspreid kunnen zijn. Gelokaliseerde tumoren zijn meestal pijnloos, stevig en traag groeiend, en worden vooral gedetecteerd in de vingers en handen (maar kunnen ook aanwezig zijn in pols, voet of enkel); patiënten zijn asymptomatisch. Diffuse tumoren zijn agressiever en treffen vaak grote gewrichten (knie, heup, enkel en schouder). Mogelijke symptomen zijn gewrichtspijn, gevoeligheid bij aanraken, zwelling, bewegingsbeperking, en hemorragische gewrichtseffusies. Sommige gelokaliseerde tumoren kunnen terugkeren, maar zijn meestal niet destructief. Recidieven treden vaker op bij diffuse tumoren en kunnen leiden tot gewrichtsinstabiliteit, artrose, en significante functionele stoornissen. Zeldzame gevallen met maligne transformatie, die zich presenteert als agressieve sarcomen die leiden tot lokale destructie en metastase naar lymfeklieren (vooral in lies en bekken) en longen, werden ook reeds gerapporteerd."},"pt":{"name":"Tumor tenosinovial de células gigantes","synonyms":["GCT tipo-difuso","TGCT","TSGCT","Tumor de células gigantes tipo-difuso"]},"pl":{"name":"Barwnikowe kosmkowo-guzkowe zapalenie błony maziowej stawów","synonyms":["GCT typ rozlany","Guz olbrzymiokomórkowy ścięgna i błony maziowej","Guz olbrzymiokomórkowy typ rozlany","TGCT","TSGCT"],"definition":"Rzadki nowotworowy guz tkanki miękkiej, wywodzący się głównie z tkanki synowialnej stawów, pochewek ścięgnistych lub kaletek. Zwykle są to guzy łagodne, mogące przyjmować postać ograniczoną lub rozsianą. Guzy ograniczone są zazwyczaj bezbolesne, twarde i rosną powoli; najczęściej wykrywane są w palcach i dłoni (mogą również występować w nadgarstku, stopie lub kostce) i nie dają objawów. Guzy typu rozlanego są bardziej agresywne i często lokalizują się w dużych stawach (kolanowym, biodrowym, skokowym i barkowym). Objawy mogą obejmować ból stawów, tkliwość, obrzęk, ograniczenie ruchomości oraz krwotoczne wysięki stawowe. Niektóre guzy ograniczone mogą nawracać, ale zazwyczaj nie powodują zniszczeń. Nawrót jest częstszy w guzach rozlanych i może prowadzić do niestabilności stawu, zwyrodnienia stawu oraz istotnego upośledzenia funkcji. Opisano również rzadkie przypadki transformacji złośliwej do agresywnych mięsaków, które powodują miejscowe zniszczenia tkanek oraz dają przerzuty do węzłów chłonnych (szczególnie pachwinowych i miednicznych) oraz płuc."},"cs":{"name":"Pigmentovaná vilonodulární synovitida","synonyms":["Difuzní typ GCT","TGCT","TSGCT","Difuzní typ obrovskobuněčného nádoru","Obrovskobuněčný tumor šlachové pochvy"]},"uk":{"name":"Теносиновіальна гігантоклітинна пухлина","synonyms":["GCT дифузного типу","Гігантоклітинна пухлина дифузного типу","Пігментний віллонодулярний синовіт","TGCT","TSGCT"],"definition":"A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment."},"zh":{"name":"色素绒毛结节性滑膜炎","synonyms":["腱鞘巨细胞瘤"]},"tr":{"name":"Pigmentli villonodüler sinovit","synonyms":["TGCT","TSGCT","Yaygın-tip GCT","Yaygın-tip dev hücreli tümör","Tenosinoviyal dev hücreli tümör"]}},"xrefs":[{"source":"ICD-10","code":"M12.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2F7Z","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH6911","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1629916831"},{"source":"MONDO","code":"0024686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"24686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000070779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1318543","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7396","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-07","source":"30745604[PMID]_31242479[PMID]_24701714[PMID]_30594158[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000372","label":"Abnormality of the auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040090","label":"Abnormality of the tympanic membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031520","label":"Groin pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040161","label":"Localized osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005195","label":"Polyarticular arthropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005186","label":"Synovial hypertrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}