{"orpha":300385,"name":"Pituitary carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300385/","orphanet_url":"https://www.orpha.net/en/disease/detail/300385","names":{"fr":{"name":"Carcinome hypophysaire","synonyms":["Carcinome pituitaire"],"definition":"Tumeur hypophysaire rare caractérisée par la présence d'un adénome hypophysaire qui s'est métastasée dans le système nerveux central ou dans des sites distants. La grande majorité des carcinomes hypophysaires secrètent des hormones, le plus souvent l'ACTH ou la prolactine. Les signes cliniques les plus courants sont le diabète insipide, le dysfonctionnement du nerf optique, le dysfonctionnement de l'hypophyse antérieure, la paralysie des nerfs crâniens III, IV ou VI et les céphalées, bien que les patients puissent également être asymptomatiques. Les tumeurs sont agressives et le pronostic réservé."},"de":{"name":"Hypophysenkarzinom","synonyms":["Karzinom der Glandula pituitaria"],"definition":"Ein seltener Hypophysentumor, der durch das Vorhandensein eines Hypophysenadenoms gekennzeichnet ist, das entweder innerhalb des zentralen Nervensystems oder in entfernte Bereiche metastasiert hat. Die überwiegende Mehrheit der Hypophysenkarzinome ist hormonell aktiv, am häufigsten mit ACTH- oder Prolaktinproduktion. Die häufigsten klinischen Symptome sind Diabetes insipidus, Funktionsstörungen des Sehnervs, Funktionsstörungen des Hypophysenvorderlappens, Lähmungen der Hirnnerven III, IV oder VI und Kopfschmerzen, obwohl die Patienten auch asymptomatisch sein können. Die Tumoren verhalten sich aggressiv, und die Prognose ist schlecht."},"es":{"name":"Carcinoma hipofisario","definition":"Es un tumor hipofisario poco frecuente caracterizado por la presencia de un carcinoma hipofisario que ha metastatizado dentro del sistema nervioso central o en sitios distantes. La gran mayoría de los carcinomas hipofisarios son hormonalmente activos, siendo lo más frecuente la producción de ACTH o de prolactina. Los síntomas clínicos más habituales son diabetes insípida, disfunción del nervio óptico y de la hipófisis anterior, así como parálisis de los nervios craneales III, IV o VI y cefaleas, aunque los pacientes también pueden permanecer asintomáticos. Los tumores presentan un comportamiento agresivo y su pronóstico es desfavorable."},"it":{"name":"Carcinoma ipofisario","definition":"Si tratta di una neoplasia ipofisaria rara, caratterizzata dalla presenza di un adenoma ipofisario con metastasi al sistema nervoso centrale o in altre aree. La maggior parte dei carcinomi ipofisari è attiva dal punto di vista ormonale, e produce per lo più ACTH o prolattina. I segni clinici più comuni sono il diabete insipido, la disfunzione del nervo ottico, la disfunzione dell'ipofisi anteriore, la paralisi del III, IV o VI nervo cranico e la cefalea; tuttavia, i pazienti possono anche essere asintomatici. Il tumore è aggressivo e la prognosi è sfavorevole."},"nl":{"name":"Hypofysecarcinoom","synonyms":["Carcinoom van hypofyse"],"definition":"Een zeldzame tumor van hypofyse, gekarakteriseerd door de aanwezigheid van een hypofyseadenoom dat heeft gemetastaseerd binnen het centrale zenuwstelsel of naar plaatsen op afstand. De overgrote meerderheid van hypofysecarcinomen is hormonaal actief, meestal met productie van ACTH of prolactine. De meest gangbare klinische symptomen zijn diabetes insipidus, disfunctie van nervus opticus, disfunctie van adenohypofyse, verlamming van hersenzenuw III, IV of VI, en hoofdpijn, hoewel patiënten ook asymptomatisch kunnen zijn. De tumoren zijn agressief, en de prognose is slecht."},"pt":{"name":"Carcinoma hipofisário"},"pl":{"name":"Rak przysadki"},"cs":{"name":"Pituitární karcinom"},"uk":{"name":"Карцинома гіпофіза","definition":"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor."},"zh":{"name":"垂体癌","definition":"一种罕见的垂体瘤，特征是垂体腺瘤转移到中枢神经系统或远处转移。绝大多垂体癌是激素活性的，最常见促肾上腺皮质激素或催乳素分泌。最常见的临床症状有尿崩症、视神经功能障碍、垂体前叶功能障碍、第三、第四或第六对颅神经麻痹和头痛，尽管患者可无症状。肿瘤为侵袭性，预后差。"},"tr":{"name":"Hipofiz karsinomu"}},"xrefs":[{"source":"ICD-10","code":"C75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017582","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346300","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":304055,"name":"Pituitary tumor","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Validated","source":"22361014[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.87,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.025,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"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":0.021,"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":0.006,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.021,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"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":0.041,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"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":0.037,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"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":0.019,"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":0.033,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.099,"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":0.052,"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":0.016,"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":0.025,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.063,"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":0.006,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"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":0.036,"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":0.135,"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":0.213,"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":0.171,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-03","source":"15741248[PMID]_23400299[PMID]_17287410[PMID]_27242211[PMID]_22404748[PMID]_20660056[PMID]_25633744[PMID]","terms":[{"hpo":"HP:0011763","label":"Pituitary carcinoma","frequency":"Obligate (100%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100836","label":"Malignant neoplasm of the central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012505","label":"Enlarged pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007987","label":"Progressive visual field defects","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010514","label":"Hyperpituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011759","label":"Pituitary gonadotropic cell adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011762","label":"Pituitary thyrotropic cell adenoma","frequency":"Very rare (<4-1%)","criteria":null}]}}