{"orpha":319487,"name":"Familial papillary or follicular thyroid carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FNMTC","Familial pure nonmedullary thyroid carcinoma"],"definition":"Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319487/","orphanet_url":"https://www.orpha.net/en/disease/detail/319487","names":{"fr":{"name":"Carcinome papillaire ou folliculaire familial de la thyroïde","synonyms":["Carcinome non médullaire pur familial de la thyroïde","FNMTC"],"definition":"Carcinome non médullaire familial de la thyroïde rare et héréditaire, caractérisé par la présence d'un cancer différencié de la thyroïde d'origine folliculaire chez au moins deux parents au premier degré, en l'absence d'autres syndromes tumoraux familiaux ou d'exposition aux radiations. Une invasion capsulaire est fréquemment observée. La biopsie met en évidence des tumeurs multicentriques avec de multiples nodules adénomateux oxyphiles ou non, et une histologie de carcinome folliculaire ou papillaire."},"de":{"name":"Schilddrüsenkarzinom, papilläres oder follikuläres, familiäre Form","synonyms":["FNMTC","Schilddrüsenkarzinom, reines nicht-medulläres, familiäre Form"]},"es":{"name":"Carcinoma papilar o folicular familiar de tiroides","synonyms":["Carcinoma no medular puro familiar de tiroides","FNMTC"],"definition":"Es un carcinoma tiroideo no medular hereditario y poco frecuente, caracterizado por la presencia de cáncer de tiroides diferenciado que se origina a partir de células foliculares en dos o más familiares de primer grado, en ausencia de otros síndromes tumorales familiares o de exposición a radiación. Se ha descrito frecuente invasión capsular. La biopsia revela tumores multicéntricos con múltiples nódulos adenomatosos con o sin oxifilia e histología compatible con carcinoma folicular o papilar."},"it":{"name":"Familial papillary or follicular thyroid carcinoma / Carcinoma papillare o follicolare familiare della tiroide","synonyms":["Carcinoma familiare puro non midollare della tiroide","FNMTC"],"definition":"Il carcinoma papillare o follicolare familiare della tiroide è un carcinoma non midollare ereditario raro della tiroide, caratterizzato dalla presenza di una neoplasia differenziata della tiroide che origina dalle cellule follicolari, in due o più consanguinei di primo grado, in assenza di altre sindromi neoplastiche familiari o di una pregressa esposizione alle radiazioni. Spesso viene invasa la capsula. La biopsia evidenzia la presenza di tumori multicentrici con noduli adenomatosi multipli con o senza ossifilia e il quadro istologico caratteristico del carcinoma follicolare o papillare."},"nl":{"name":"Familiaal papillair of folliculair thyroïdcarcinoom","synonyms":["Familiale papillaire of folliculaire schildklierkanker","FNMTC","Familiaal papillair of folliculair schildkliercarcinoom","Familiaal zuiver niet-medullair thyroïdcarcinoom"],"definition":"Familiaal papillair of folliculair thyroïdcarcinoom is een zeldzaam, erfelijk, niet-medullair schildkliercarcinoom dat gekarakteriseerd wordt door de aanwezigheid van gedifferentieerde schildklierkanker ontstaan uit folliculaire cellen in twee of meer eerstegraadsverwanten, in afwezigheid van andere familiale tumorsyndromen of blootstelling aan straling. Vaak wordt capsulaire invasie waargenomen. Biopsie toont multicentrische tumoren met meervoudige adenomateuze noduli met of zonder oxyfilie en een histologie compatibel met folliculair of papillair carcinoom."},"pt":{"name":"Carcinoma papilar ou folicular da tiroide, forma familiar"},"pl":{"name":"Rodzinny brodawkowaty lub pęcherzykowy rak tarczycy","synonyms":["Czysty nierdzeniasty rak tarczycy","FNMTC"]},"cs":{"name":"Familiární papilární nebo folikulární tyroidní karcinom","synonyms":["FNMTC","Familia´rni´ cistý nemedula´rni´ karcinom s?ti´tne´ z?la´zy","Familiární čistý nemedulární karcinom štítné žlázy"]},"uk":{"name":"Сімейна папілярна або фолікулярна карцинома щитоподібної залози","synonyms":["Сімейна чиста немедулярна карцинома щитоподібної залози","FNMTC"],"definition":"Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology."},"zh":{"name":"家族性乳头状或滤泡性甲状腺癌","synonyms":["家族性单纯性非髓性甲状腺癌"],"definition":"家族性乳头状或滤泡性甲状腺癌是一种罕见的遗传性非髓性甲状腺癌，其特征是在两个或多个一级亲属中存在滤泡细胞来源的分化型甲状腺癌，而没有其他家族性肿瘤综合征或辐射暴露。包膜侵犯常见。活检显示多中心肿瘤伴有多个腺瘤结节，伴或不伴有嗜氧性和滤泡性或乳头状癌组织学。"},"tr":{"name":"Ailesel papiller veya foliküler tiroid karsinomu","synonyms":["FNMTC","Ailesel saf medüller olmayan tiroid karsinomu"]}},"xrefs":[{"source":"OMIM","code":"188470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"188550","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603386","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603744","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606240","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616534","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616535","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017895","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8488","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319494,"name":"Familial nonmedullary thyroid carcinoma","classifications":[156,193,202]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"MINPP1","name":"multiple inositol-polyphosphate phosphatase 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11297621[PMID]","hgnc":"7102","ensembl":"ENSG00000107789","omim":"605391","loci":["10q23.2"]},{"symbol":"FOXE1","name":"forkhead box E1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25381600[PMID]","hgnc":"3806","ensembl":"ENSG00000178919","omim":"602617","loci":["9q22.33"]},{"symbol":"HABP2","name":"hyaluronan binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26222560[PMID]","hgnc":"4798","ensembl":"ENSG00000148702","omim":"603924","loci":["10q25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-10-12","source":"10030330[PMID]_22136209[PMID]_21190444[PMID]_11701697[PMID]_20001717[PMID]_20628519[PMID]_18832444[PMID]_3789026[PMID]_25881596[PMID]_21593347[PMID]_21816796[PMID]_9024215[PMID]_22443981[PMID]_9186475[PMID]_24617715[PMID]_24857573[PMID]_25928353[PMID]_7632152[PMID]","terms":[{"hpo":"HP:3000037","label":"Abnormality of neck blood vessel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006731","label":"Follicular thyroid carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006766","label":"Papillary renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null}]}}