{"orpha":424019,"name":"Squamous cell carcinoma of the anal canal","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424019/","orphanet_url":"https://www.orpha.net/en/disease/detail/424019","names":{"fr":{"name":"Carcinome épidermoïde du canal anal","definition":"Un néoplasme épithélial intestinal rare dérivant des cellules épithéliales squameuses du canal anal. L'aspect macroscopique varie de petites lésions bénignes (mimant des fissures, des hémorroïdes ou des fistules anorectales) à une large tumeur exophytique ou ulcéreuse, située au sein du canal. Les patients peuvent être asymptomatiques ou peuvent présenter des difficultés pour déféquer, un saignement, une douleur et/ou des pertes anales. Ils ont souvent des antécédents de fistules anales et d'abcès chroniques, de maladie de Crohn, d'hémorroïdes, ou, principalement chez les patients plus jeunes, une immunosuppression (telle qu'une infection par le VIH). Une infection par le papillomavirus est fréquemment rapportée."},"de":{"name":"Plattenepithelkarzinom des Analkanals","synonyms":["Squamöses Karzinom des Analkanals"],"definition":"Das Plattenepithelkarzinom des Analkanals ist ein seltene epitheliale intestinale Neoplasie, die von Plattenepithelzellen im Analkanal ausgeht und ein variables makroskopisches Erscheinungsbild aufweist, das von kleinen, gutartigen Läsionen (die Fissuren, Hämorrhoiden oder anorektale Fisteln imitieren) bis hin zu einem großen, exophytischen oder ulzerierenden Tumor reicht, der im Analkanal lokalisiert ist. Die Patienten können asymptomatisch sein oder Schwierigkeiten bei der Defäkation, anale Blutungen, Schmerzen und/oder Ausfluss aufweisen und haben oft eine Vorgeschichte mit chronischen Analfisteln und -abszessen, Morbus Crohn, Hämorrhoiden oder, besonders bei jüngeren Patienten, eine Immunsuppression (z. B. HIV-Infektion). Ein Zusammenhang mit einer HPV-Infektion wird häufig berichtet."},"es":{"name":"Carcinoma de células escamosas del canal anal","definition":"El carcinoma de células escamosas del canal anal es una neoplasia epitelial intestinal poco frecuente que se origina en las células epiteliales escamosas del canal anal, con apariencia macroscópica variable, que varía desde lesiones benignas pequeñas (que se asemejan a fisuras, hemorroides o fístulas anorrectales) hasta un tumor grande, exofítico o ulcerante, localizado en el canal anal. Los afectados pueden ser asintomáticos o presentar dificultades para defecar, sangrado anal, dolor y/o secreción, y con frecuencia tienen antecedentes de fístulas anales crónicas y abscesos, enfermedad de Crohn, hemorroides o, especialmente en afectados más jóvenes, inmunosupresión (tal como infección por VIH). Es muy común la asociación con infección por VPH."},"it":{"name":"Carcinoma a cellule squamose del canale anale","definition":"Il carcinoma a cellule squamose del canale anale è una neoplasia rara dell'epitelio intestinale, che origina dalle cellule epiteliali squamose del canale anale. L'aspetto al microscopio è variabile e comprende piccole lesioni benigne (che assomigliano a fissurazioni, emorroidi o fistole anorettali) oppure una massa tumorale esofitica o ulcerata di ampie dimensioni localizzata nel canale anale. I pazienti possono essere asintomatici oppure presentare difficoltà alla defecazione, emorragie anali, dolore e/o perdite; spesso hanno un'anamnesi positiva per fistole anali croniche e ascessi, morbo di Crohn, emorroidi, oppure, soprattutto i pazienti più giovani, immunosoppressione (ad esempio infezione da HIV). In numerosi casi è stata segnalata un'associazione con un'infezione da HPV."},"nl":{"name":"Plaveiselcelcarcinoom van anaal kanaal","definition":"Plaveiselcelcarcinoom van het anaal kanaal is een zeldzaam epitheliaal intestinaal neoplasma, dat ontstaat uit squameuze epitheelcellen in het anaal kanaal, en een variabel macroscopisch uiterlijk heeft, gaande van kleine, goedaardige laesies (die lijken op fissuren, aambeien of anorectale fistels) tot een grote, exofytische of etterende tumor gesitueerd in het anaal kanaal. Patiënten kunnen asymptomatisch zijn of moeilijkheden met ontlasten, anale bloeding, pijn en/of afscheiding vertonen, en hebben vaak een geschiedenis van chronische anale fistels en abcessen, ziekte van Crohn, aambeien, of, vooral bij jongere patiënten, immuunsuppressie (zoals HIV-infectie). Associatie met HPV-infectie wordt geregeld gerapporteerd."},"pt":{"name":"Carcinoma de células escamosas do canal anal"},"pl":{"name":"Rak łuskowaty kanału odbytu"},"cs":{"name":"Dlaždicobuněčný karcinom análního kanálu"},"uk":{"name":"Плоскоклітинний рак анального каналу","definition":"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported."},"zh":{"name":"肛管鳞状细胞癌","definition":"肛管鳞状细胞癌是一种罕见的上皮性肠肿瘤，起源于肛管中的鳞状上皮细胞。其具有多样的大体表现：小的良性病变（如微小的裂痕，痔疮或肛门直肠瘘）到大的外生性或溃疡性肿瘤。患者可能无症状或排便困难，肛门出血，疼痛和/或排出，并且经常有慢性肛门瘘和脓肿，克罗恩病，痔疮的病史，或者尤其是在年轻患者中有免疫抑制作用（例如HIV感染） 。据报道通常与HPV感染相关。"},"tr":{"name":"Anal kanalın skuamöz hücreli karsinomu"}},"xrefs":[{"source":"ICD-10","code":"C21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C00.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"585238371"},{"source":"MONDO","code":"0004132","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4301960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":424013,"name":"Carcinoma of the anal canal","classifications":[152,202,233]}],"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":0.81,"area":"Europe","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":0.194,"area":"Slovakia","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":0.331,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.712,"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":0.621,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.038,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.096,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.307,"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":0.809,"area":"Iceland","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":0.416,"area":"Ireland","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":0.872,"area":"Italy","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":"Latvia","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":0.153,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.071,"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":0.411,"area":"Poland","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":0.603,"area":"Portugal","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":0.923,"area":"Austria","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":0.707,"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":0.268,"area":"Bulgaria","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":0.251,"area":"Croatia","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":0.568,"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":0.6,"area":"Estonia","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":0.464,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-07","source":"26602415[PMID]_21043813[PMID]_26988618[PMID]","terms":[{"hpo":"HP:0030438","label":"Anal canal squamous cell carcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}