"38504" . . . "Praktick\u00E1 diagnostika Lynchovho syndr\u00F3mu: poh\u013Ead patol\u00F3ga" . "13" . . "microsatellite instability; immunohistochemistry; hsitopathology; colorectal cancer; Lynch syndrome"@en . . . . "2"^^ . "2"^^ . "\u0160vajdler, Mari\u00E1n" . . "11140" . "2" . "RIV/00216208:11140/14:10283839" . "[D0E322F85538]" . "\u0160vajdler, Mari\u00E1n" . "Practical diagnostics of Lynch syndrome: pathologists perspective"@en . "5"^^ . "1336-1473" . "Lynchov syndr\u00F3m (LS) je autozom\u00E1lne dominantne dedi\u010Dn\u00FD syndr\u00F3m predisponuj\u00FAci na vzniku po\u010Detn\u00FDch malign\u00EDt. Je naj\u010Dastej\u0161ou pr\u00ED\u010Dinou heredit\u00E1rneho kolorekt\u00E1lneho karcin\u00F3mu (CRC) so zn\u00E1mym genetick\u00FDm podkladom a u \u017Eien predstavuje takmer rovnak\u00E9 riziko pre vznik karcin\u00F3mu endometria. LS je definovan\u00FD pr\u00EDtomnos\u0165ou z\u00E1rodo\u010Dnej mut\u00E1cie v g\u00E9ne pre niektor\u00FD z %22DNA mismatch repair%22 prote\u00EDnov (MMRP), ktor\u00E9 sa podie\u013Eaj\u00FA na oprave ch\u00FDb vznikaj\u00FAcich pri replik\u00E1cii DNA. Markerom deficitu MMRP je mikrosatelitov\u00E1 instabilita (MSI), ktor\u00E1 sa v\u0161ak okrem LS vyskytuje aj pri \u010Dasti sporadick\u00FDch CRC. V s\u00FA\u010Dasnosti najpou\u017E\u00EDvanej\u0161ie klinick\u00E9 krit\u00E9ri\u00E1 na z\u00E1chytnos\u0165 LS (Revised Bethesda Guidelines; RBG) maj\u00FA relat\u00EDvne n\u00EDzku senzitivitu. Odhaduje sa, \u017Ee RBG nezachytia 20-30 % pr\u00EDpadov CRC asociovan\u00FDch s LS. \u00DAlohou patol\u00F3ga vy\u0161etruj\u00FAceho pacienta s CRC je zv\u00FD\u0161i\u0165 z\u00E1chytnos\u0165 LS. S t\u00FDmto \u00FA\u010Delom je pou\u017E\u00EDvan\u00FD komplexn\u00FD algoritmus zalo\u017Een\u00FD na histomorfologickom vy\u0161etren\u00ED (detekcia %22MSI-high%22 histol\u00F3gie CRC), imunohistoch\u00E9mii (detekcia expresie MMRP, pr\u00EDpadne \u010Fal\u0161\u00EDch prote\u00EDnov) a molekulovo-patologickom vy\u0161etren\u00ED. Cie\u013Eom je zachyti\u0165 a potvrdi\u0165 karcin\u00F3m s vysok\u00FDm stup\u0148om MSI (MSI-high), po ktorom nasleduj\u00FA vy\u0161etrenia zameran\u00E9 na vyl\u00FA\u010Denie CRC, ktor\u00E9 s\u00FA sporadick\u00E9. Diagn\u00F3zu LS je n\u00E1sledne potvrden\u00E1 detekciou z\u00E1rodo\u010Dnej mut\u00E1cie, cielenej na pr\u00EDslu\u0161n\u00FD MMR g\u00E9n, v\u00FDsledkom predch\u00E1dzaj\u00FAceho imunohistochemick\u00E9ho vy\u0161etrenia." . . . "Gastroenterol\u00F3gia pre prax" . "I" . . "Daum, Ond\u0159ej" . . "RIV/00216208:11140/14:10283839!RIV15-MSM-11140___" . . . "SK - Slovensk\u00E1 republika" . . "Practical diagnostics of Lynch syndrome: pathologists perspective"@en . . "Praktick\u00E1 diagnostika Lynchovho syndr\u00F3mu: poh\u013Ead patol\u00F3ga" . . "Lynch syndrome (LS) is an autosomal dominant inherited syndrome, with predisposition to multiple cancer types. It is the most common cause of familial colorectal cancer (CRC) with a known genetic background. In woman carriers of LS, the risk of endometrial cancer almost equals the risk of CRC. LS is defined by germline mutation in one of the DNA mismatch repair protein (MMRP) genes, which are responsible for corrections of errors occuring during DNA replication. Marker of MMRP deficiency is microsatellite instability (MSI), occuring also in a proportion of sporadic CRCs. Revised Bethesda Guidelines (RBG), the most commonly used clinical criteria for LS detection, have relatively low sensitivity and specificity. It is estimated that RBG fail to identify 20-30 % cases of LS associated CRCs. Role of the pathologist is to increase detection of LS. For that purpose, complex algorithm is used, based on histomorphology (detection of MSI-high histology in CRC), immunohistochemistry (expression of MMRP and other proteins) and molecular pathology. First objective is to detect MSI-high CRC, and differentiate between sporadic and LS associated tumors. Finaly, diagnosis of LS is confirmed by germline mutation testing, guided by the immunohistochemistry of MMRP."@en .