{"orpha":2126,"name":"Solitary fibrous tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SFT"],"definition":"A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. <i>NAB2-STAT6</i> gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2126/","orphanet_url":"https://www.orpha.net/en/disease/detail/2126","names":{"fr":{"name":"Tumeur fibreuse solitaire","definition":"Tumeur rare des tissus mous caractérisée par une masse bien circonscrite pouvant affecter toute région anatomique. L'histopathologie met en évidence des cellules d'aspect floconneux à ovoïde disposées autour d'un réseau vasculaire ramifié et hyalinisé et un dépôt variable de collagène stromal. L'immunohistochimie révèle l'expression de CD34 et/ou de STAT6. La fusion des gènes <i>NAB2-STAT6</i> est pathognomonique de cette tumeur, qui peut être maligne ou bénigne. Sur le plan clinique, la plupart des patients présentent une masse indolore à croissance lente. Les tumeurs de taille importante peuvent provoquer des syndromes paranéoplasiques tels que le syndrome de Doege-Potter, avec induction d'une hypoglycémie sévère ou de caractéristiques acromégaloïdes."},"de":{"name":"Solitärer fibröser Tumor","synonyms":["SFT"],"definition":"Ein seltener Weichteiltumor, der durch eine gut abgegrenzte Gewebeverdichtung gekennzeichnet ist, die potenziell an jeder anatomischen Stelle auftreten kann und histopathologisch spindelförmige bis ovale Zellen aufweist, die um ein verzweigtes und hyalinisiertes Gefäßsystem und variable Stromakollagenablagerungen angeordnet sind. Die Immunhistochemie zeigt eine CD34- und/oder STAT6-Expression. <i>NAB2-STAT6</i>-Genfusionen sind pathognomonisch für diesen Tumor, der maligne oder benigne sein kann. Klinisch präsentieren sich die meisten Patienten mit einer langsam wachsenden, schmerzlosen Gewebeverdichtung. Große Tumoren können paraneoplastische Syndrome wie das Doege-Potter-Syndrom mit schwerer Hypoglykämie oder akromegalischen Merkmalen verursachen."},"es":{"name":"Tumor fibroso único","synonyms":["TFS"],"definition":"Es un tumor de tejidos blandos poco frecuente caracterizado por una masa bien circunscrita que puede aparecer en cualquier sitio anatómico y que histopatológicamente muestra células fusiformes u ovoides dispuestas alrededor de una vasculatura ramificada e hialinizada y un depósito estromal variable de colágeno. La inmunohistoquímica revela expresión de CD34 y/o STAT6. Las fusiones de los genes <i>NAB2-STAT6</i> son patognomónicas de este tumor, que puede ser maligno o benigno. Clínicamente, la mayoría de los pacientes presenta una masa indolora y de crecimiento lento. Los tumores grandes pueden causar síndromes paraneoplásicos como el síndrome de Doege-Potter, con la inducción de hipoglucemia grave o características acromegaloides."},"it":{"name":"Tumore fibroso solitario","synonyms":["SFT"],"definition":"Il tumore fibroso solitario (SFT) comprende un gruppo di neoplasie rare delle cellule fusiformi, che possono essere benigne o maligne e di solito originano dalla pleura e dal peritoneo; solo raramente originano da altre sedi, come la testa, il collo, il fegato e i muscoli scheletrici. Il tumore fibroso solitario può essere asintomatico dal punto di vista clinico, oppure esordire come massa che scresce, con effetti compressivi variabili in rapporto alla sua localizzazione e, raramente, segni paraneoplastici (osteoartropatia o ipoglicemia)."},"nl":{"name":"Solitaire fibreuze tumor","synonyms":["SFT"],"definition":"Een zeldzame tumor van weke delen, gekenmerkt door een goed begrensde massa die in theorie op eender welke anatomische locatie kan voorkomen, en histopathologisch bestaande uit spoelvormige tot ovoïde cellen gerangschikt rond vertakte en gehyaliniseerde vasculatuur en variabele stromale depositie van collageen. Immuunhistochemie toont expressie van CD34 en/of STAT6. Fusies van de genen <i>NAB2-STAT6</i> zijn pathognomonisch voor deze tumor, die kwaad- of goedaardig kan zijn. Klinisch presenteren de meeste patiënten zich met een traag groeiende, pijnloze massa. Grote tumoren kunnen paraneoplastische syndromen zoals syndroom van Doege-Potter veroorzaken, met inductie van ernstige hypoglycemie of acromegaloïde kenmerken."},"pt":{"name":"Tumor fibroso solitário","synonyms":["SFT"]},"pl":{"name":"Guz włóknisty","synonyms":["Pojedynczy guz włóknisty"],"definition":"Rzadki nowotwór z komórek wrzecionowatych, który może mieć charakter łagodny lub złośliwy i najczęściej wywodzi się z opłucnej lub otrzewnej, rzadziej z innych lokalizacji, takich jak głowa i szyja, wątroba i mięśnie szkieletowe. Choroba może mieć przebieg bezobjawowy lub może ujawnić się w postaci rosnącego guza lub objawów ucisku w zależności od zajętego regionu ciała, rzadziej objawów paraneoplastycznych (osteoartropatia lub hipoglikemia)."},"cs":{"name":"Solitární fibrózní tumor","synonyms":["SFT"]},"uk":{"name":"Солітарна фіброзна пухлина","synonyms":["SFT"],"definition":"A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. <i>NAB2-STAT6</i> gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features."},"zh":{"name":"孤立性纤维瘤/血管外皮细胞瘤","synonyms":["SFT/HPC"]},"tr":{"name":"Soliter fibröz tümör / hemanjiyoperisitom","synonyms":["SFT/HPC"]}},"xrefs":[{"source":"OMIM","code":"234820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D21.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018922","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"NAB2","name":"NGFI-A binding protein 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23313952[PMID]_23313954[PMID]","hgnc":"7627","ensembl":"ENSG00000166886","omim":"602381","loci":["12q13.3"]},{"symbol":"STAT6","name":"signal transducer and activator of transcription 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23313952[PMID]_23313954[PMID]","hgnc":"11368","ensembl":"ENSG00000166888","omim":"601512","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"24625420[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-20","source":"30923297[PMID]_30957324[PMID]_29257041[PMID]_26746203[PMID]_31020464[PMID]_27562490[PMID]_28687087[PMID]","terms":[{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010787","label":"Genital neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100527","label":"Neoplasia of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031459","label":"Soft tissue neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008775","label":"Abnormal prostate morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040216","label":"Hypoinsulinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031501","label":"Pelvic mass","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030795","label":"Reduced C-peptide level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100650","label":"Vaginal neoplasm","frequency":"Very rare (<4-1%)","criteria":null}]}}