{"orpha":569248,"name":"Microcystic stromal tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MCST"],"definition":"A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569248/","orphanet_url":"https://www.orpha.net/en/disease/detail/569248","names":{"fr":{"name":"Tumeur stromale microkystique","definition":"Tumeur bénigne rare de l'ovaire, caractérisée par un stroma tumoral présentant une morphologie microkystique variable, une faible activité mitotique et une immunoréactivité nucléaire diffuse de la bêta-caténine et de la cycline D1, en l'absence de l'expression de l'inhibine et la calrétinine. Les patients présentent le plus souvent les symptômes d'une masse pelvienne unilatérale. Les signes cliniques d'un déséquilibre hormonal sont généralement absents. La tumeur peut être associée à une polypose adénomateuse familiale."},"de":{"name":"Mikrozystischer Stromatumor","synonyms":["MCST"],"definition":"Ein seltener gutartiger Stromatumor der Eierstöcke, der durch eine Stroma-Neoplasie mit variabler mikrozystischer Morphologie, geringer mitotischer Aktivität und diffuser nukleärer Beta-Catenin- und Cyclin D1-Immunreaktivität gekennzeichnet ist, während Inhibin und Calretinin nicht exprimiert werden. Die Patienten stellen sich meist mit den Symptomen einer einseitigen Gewebeverdichtung im Beckenbereich vor. Hormonelle Manifestationen sind in der Regel nicht vorhanden. Der Tumor kann mit einer familiären adenomatösen Polyposis assoziiert sein."},"es":{"name":"Tumor estromal microquístico","definition":"Es un tumor estromal ovárico benigno poco frecuente, caracterizado por una neoplasia del estroma con morfología microquística variable, baja actividad mitótica e inmunorreactividad nuclear difusa para beta-catenina y ciclina D1, aunque sin expresión de inhibina y calretinina. Las pacientes se presentan, por lo general, con síntomas de una masa pélvica unilateral. Las manifestaciones hormonales suelen estar ausentes. El tumor puede estar asociado a poliposis adenomatosa familiar."},"it":{"name":"Tumore stromale microcistico","synonyms":["MCST"],"definition":"Si tratta di un tumore stromale benigno raro dell'ovaio, caratterizzato da una neoplasia stromale con morfologia microcistica variabile, ridotta attività mitotica e diffusa immunoreattività nucleare della beta-catenina e della ciclina D1, mentre l'inibina e la calretinina non sono espresse. Di solito i pazienti presentano sintomi correlati alla presenza di una massa pelvica monolaterale, mentre in genere non presentano sintomi ormonali. Questo tumore può associarsi alla poliposi adenomatosa familiare."},"nl":{"name":"Microcystische stromale tumor","synonyms":["MCST"],"definition":"Een zeldzame benigne stromale tumor van ovarium, gekarakteriseerd door een stromaal neoplasma met variabele microcystische morfologie, lage mitotische activiteit, en diffuse nucleaire immunoreactiviteit voor bèta-catenine en cycline-D1, terwijl inhibine en calretinine niet tot expressie worden gebracht. Patiënten presenteren zich doorgaans met symptomen van een unilaterale massa in het bekken. Hormonale manifestaties zijn meestal afwezig. De tumor kan geassocieerd zijn met familiale adenomateuze polypose."},"pt":{"name":"Tumor microquístico do estroma"},"pl":{"name":"Drobnopęcherzykowy guz z komórek podścieliska","synonyms":["MCST"]},"cs":{"name":"Mikrocystický stromální tumor","synonyms":["MCST"]},"uk":{"name":"Мікрокістозна стромальна пухлина","synonyms":["MCST"],"definition":"A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis."},"zh":{"name":"微囊性子宫内膜间质细胞瘤","synonyms":["MCST"]},"tr":{"name":"Mikrokistik stromal tümör","synonyms":["MCST"]}},"xrefs":[{"source":"ICD-10","code":"D27","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F32.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH35B3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1090491293"},{"source":"MONDO","code":"0006339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838965","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":97293,"name":"Rare benign ovarian tumor","classifications":[202,205]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28551672[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}