{"orpha":213531,"name":"Metaplastic carcinoma of the breast","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-213531/","orphanet_url":"https://www.orpha.net/en/disease/detail/213531","names":{"fr":{"name":"Carcinome métaplasique du sein","definition":"Un sous-type rare et agressif du carcinome invasif du sein, caractérisé par une croissance rapide, une tumeur relativement large et une tendance à métastaser dans les organes distants, surtout les poumons. L'atteinte des ganglions lymphatiques axillaires est relativement plus rare. Sur le plan histologique, la tumeur présente une cellularité de haut grade et une différenciation hétérologue, incluant des éléments chondroïdes, osseux, pléomorphes/sarcomateux, en fuseau et squameux. Les patients présentent généralement une masse large et mobile, bien circonscrite, située au niveau du sein et croissant rapidement. Elle peut devenir douloureuse et impliquer le mur thoracique et la peau, conduisant à une ulcération."},"de":{"name":"Metaplastisches Karzinom der Brust","definition":"Das metaplastische Mammakarzinom ist ein seltener, aggressiver Subtyp des invasiven Mammakarzinoms, der sich durch ein schnelles Wachstum, eine relativ große Tumorgröße und eine Tendenz zur Metastasierung in entfernte Organe, insbesondere in die Lunge, auszeichnet, wobei die axillären Lymphknoten relativ seltener befallen werden. Histologisch zeigt der Tumor eine hochgradige Zellularität und heterologe Differenzierung, einschließlich chondroider, ossärer, pleomorpher/sarkomatoider, spindelförmiger und squamöser Elemente. Die Patienten stellen sich in der Regel mit einem schnell wachsenden, großen, gut umschriebenen, beweglichen Knoten in der Brust vor, der schmerzhaft werden kann und bei Befall der Brustwand und Haut zu einer Ulzeration führt."},"es":{"name":"Carcinoma metaplásico de mama","definition":"El carcinoma metaplásico de mama es un subtipo agresivo y poco frecuente de carcinoma de mama invasivo caracterizado por un crecimiento rápido, un tamaño tumoral relativamente grande y una tendencia a metastatizar a órganos distantes, particularmente a los pulmones, con una afectación relativamente menos frecuente de los ganglios linfáticos axilares. Histológicamente, el tumor muestra un alto grado de celularidad y diferenciación heteróloga, incluyendo elementos condroides, óseos, pleomorfos/sarcomatoides, en huso y escamosos. Por lo general, los afectados se presentan con un bulto en la mama, móvil, grande, de crecimiento rápido, bien delimitado, que puede llegar a ser doloroso y afectar a la pared torácica y la piel, produciendo una ulceración."},"it":{"name":"Carcinoma metaplastico della mammella","definition":"Il carcinoma metaplastico della mammella è un sottotipo raro e aggressivo di carcinoma invasivo della mammella, caratterizzato da crescita rapida e dimensioni relativamente grandi, con tendenza alla metastizzazione, in particolare nei polmoni, e interessamento relativamente meno frequente dei linfonodi del cavo ascellare. Dal punto di vista istologico, il tumore presenta cellularità di grado elevato e differenziazione eterologa, con elementi condroidi, ossei, pleomorfi/sarcomatoidi, fusiformi e squamosi. Di solito i pazienti mostrano una massa di grosse dimensioni, mobile, ben circoscritta sul seno; la massa cresce rapidamente, può essere dolorosa e interessare la parete toracica e la cute, causando ulcerazioni."},"nl":{"name":"Metaplastisch carcinoom van borst","definition":"Metaplastisch carcinoom van de borst is een zeldzaam, agressief subtype van invasief borstcarcinoom dat gekarakteriseerd wordt door een snelle groei, relatief grote omvang van de tumor en een aanleg om te metastaseren naar organen op afstand, voornamelijk de longen, met relatief minder frequente betrokkenheid van de lymfeklieren in de oksels. Histologisch vertoont de tumor hooggradige cellulariteit en heterologe differentiatie, met onder meer chondroïde, osseuze, pleomorfe/sarcomatoïde, spoelvormige, en squameuze elementen. Patiënten vertonen meestal een snel groeiende, grote, duidelijk begrensde, mobiele knobbel in de borst, die pijnlijk kan worden en de borstwand en de huid kan treffen, wat leidt tot verzwering."},"pt":{"name":"Carcinoma metaplásico da mama"},"pl":{"name":"Metaplastyczny rak piersi"},"cs":{"name":"Metaplastický karcinom prsu"},"uk":{"name":"Метапластична карцинома молочної залози","definition":"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration."},"zh":{"name":"乳腺化生性癌","definition":"化生性乳腺癌是一种罕见的侵袭性乳腺癌，其特点是迅速增殖，瘤体较大，并有向远处器官（特别是肺部）转移的趋势，腋窝淋巴结相对受累较少。组织学上表现为高级别和异源性分化，包括软骨样、骨性、多形性/肉瘤样、梭形和鳞状细胞。患者通常表现为乳房内快速生长的、大的、边界清楚的、可活动的肿块，伴胸部疼痛，可累及胸壁和皮肤，出现溃疡。"},"tr":{"name":"Metaplastik meme karsinomu"}},"xrefs":[{"source":"ICD-10","code":"C50.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C50.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"313445809"},{"source":"MONDO","code":"0006043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1334708","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073100","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":180257,"name":"Rare malignant breast tumor","classifications":[202,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.074,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.065,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.096,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.084,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.031,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.082,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.074,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.226,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.136,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.108,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.104,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.163,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.128,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.135,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.238,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.081,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.059,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}