{"orpha":363976,"name":"Giant cell tumor of bone","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GCT of bone","Osteoclastoma"],"definition":"A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363976/","orphanet_url":"https://www.orpha.net/en/disease/detail/363976","names":{"fr":{"name":"Tumeur osseuse à cellules géantes","synonyms":["Ostéoclastome","TCG osseuse"],"definition":"Sarcome osseux rare caractérisé par une tumeur habituellement bénigne se développant au détriment des tissus adjacents, qui est localement agressive et considérablement dommageable pour le tissu osseux entourant la lésion. La tumeur est composée de cellules géantes multinucléées (cellules de type ostéoclastiques), de macrophages mononucléaires et de cellules stromales mononucléaires qui sécrètent des facteurs pro-myéloïdes et pro-ostéoclastiques. Le taux de récidive est élevé, l'évolution vers une forme maligne, ainsi que les métastases, sont rares."},"de":{"name":"Riesenzell-Tumor des Knochens","synonyms":["GCT des Knochens","Osteoklastom"],"definition":"Ein Knochensarkom, das durch eine meist gutartige, raumfordernde Läsion gekennzeichnet ist, die jedoch lokal aggressiv ist und das umliegende Knochengewebe massiv schädigt. Der Tumor besteht aus mehrkernigen Riesenzellen (osteoklastenähnlichen Zellen), mononukleären Makrophagen und mononukleären Stromazellen, die pro-myeloische und pro-osteoklastische Faktoren absondern. Maligne Transformation und Metastasierung sind selten, aber die Rezidivrate ist hoch."},"es":{"name":"Tumor óseo de células gigantes","synonyms":["Osteoclastoma","TCG de hueso"],"definition":"Es un sarcoma óseo poco frecuente caracterizado por una lesión ocupante de espacio, habitualmente benigna, que, sin embargo, es localmente agresiva, y daña masivamente el tejido óseo circundante. El tumor está compuesto por células gigantes multinucleadas (similares a los osteoclastos), macrófagos mononucleados y células estromales mononucleadas secretoras de factores pro-mieloides y pro-osteoclásticos. La metástasis y la transformación maligna son poco frecuentes, aunque la tasa de recidiva es elevada."},"it":{"name":"Tumore dell'osso a cellule giganti","synonyms":["GCT dell'osso"],"definition":"Si tratta di un sarcoma osseo raro, caratterizzato da una lesione espansiva di solito benigna, che è tuttavia localmente aggressiva e che danneggia in maniera massiccia il tessuto osseo circostante. Il tumore è composto da cellule giganti multinucleate (simil-osteoclasti), da macrofagi mononucleati e da cellule stromali mononucleate che secernono fattori pro-mieloidi e pro-osteoclastici. Le metastasi e l'evoluzione maligna sono rare, ma il tasso di ricorrenza è elevato."},"nl":{"name":"Reusceltumor van bot","synonyms":["GCT van bot","Osteoclastoom"],"definition":"Een zeldzaam sarcoom van bot, gekarakteriseerd door een meestal goedaardige, ruimte-innemende laesie, die desalniettemin lokaal agressief is en massale schade veroorzaakt aan omliggend botweefsel. De tumor bestaat uit multinucleaire reuscellen (osteoclast-achtige cellen), mononucleaire macrofagen, en mononucleaire stromale cellen die promyeloïde en pro-osteoclastische factoren afscheiden. Metastase en maligne transformatie zijn zeldzaam, maar het herhalingsrisico is hoog."},"pt":{"name":"Tumor ósseo de células gigantes"},"pl":{"name":"Wielkokomórkowy guz kości","synonyms":["GCT kości"]},"cs":{"name":"Obrovskobuněčný nádor kostí","synonyms":["GCT kostí"]},"uk":{"name":"Гігантоклітинна пухлина кісток","synonyms":["GCT кісток","Остеокластома"],"definition":"A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high."},"zh":{"name":"骨巨细胞瘤","synonyms":["骨巨细胞瘤"],"definition":"本病是一种罕见的骨肉瘤，其特征是通常为良性的占位性病变，但仍具有局部侵袭性，并会严重破坏周围的骨组织。该肿瘤由分泌髓样前体和破骨前因子的巨多核细胞（破骨细胞样细胞），单核巨噬细胞和单核基质细胞组成。转移和恶性转化很少见，但复发率很高。"},"tr":{"name":"Dev hücreli kemik tümörü","synonyms":["Kemik GCT'si","Osteoklastom"]}},"xrefs":[{"source":"ICD-10","code":"D48.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2F7B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1532825584"},{"source":"ICD-11","code":"2F9B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1483993013"},{"source":"ICD-11","code":"XH0492","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1231950652"},{"source":"ICD-11","code":"XH4TC2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"608573942"},{"source":"MONDO","code":"0005674","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206638","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10005969","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":223727,"name":"Bone sarcoma","classifications":[199,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1404,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"}],"phenotypes":null}