{"id":7339,"date":"2021-12-16T08:53:28","date_gmt":"2021-12-16T07:53:28","guid":{"rendered":"https:\/\/semmelweis.hu\/patologia1\/?page_id=7339"},"modified":"2021-12-16T08:54:46","modified_gmt":"2021-12-16T07:54:46","slug":"tso500","status":"publish","type":"page","link":"https:\/\/semmelweis.hu\/patologia1\/diagnosztika-profilok\/molekularis-onkologia\/tso500\/","title":{"rendered":"TSO500"},"content":{"rendered":"

Trusight Oncology 500TM <\/sup>\u00a0– Komprehenz\u00edv Genomikai Profiloz\u00e1s<\/strong><\/p>\n

A vizsg\u00e1lat le\u00edr\u00e1sa<\/p>\n

A Trusight Oncology 500TM <\/sup>(TSO500) vizsg\u00e1lat a daganatok kialakul\u00e1s\u00e1hoz vezet\u0151 \u00e9s kezel\u00e9sre adott v\u00e1lasz\u00e1nak szempontj\u00e1b\u00f3l legfontosabb 523 g\u00e9n teljes k\u00f3dol\u00f3 szekvenci\u00e1j\u00e1nak vizsg\u00e1lat\u00e1t v\u00e9gzi el. Tov\u00e1bbi 59 g\u00e9n eset\u00e9ben vizsg\u00e1lja a ter\u00e1pia szempontj\u00e1b\u00f3l jelent\u0151s k\u00f3piasz\u00e1m elt\u00e9r\u00e9seket, valamint 55 g\u00e9n eset\u00e9ben inform\u00e1ci\u00f3t szolg\u00e1ltat a g\u00e9nf\u00fazi\u00f3kr\u00f3l \u00e9s splice-vari\u00e1nsokr\u00f3l a vizsg\u00e1lathoz tartoz\u00f3 RNS szekven\u00e1l\u00e1s eredm\u00e9nye alapj\u00e1n (A vizsg\u00e1lt g\u00e9nek, k\u00f3piasz\u00e1m elt\u00e9r\u00e9sek \u00e9s g\u00e9nf\u00fazi\u00f3k teljes list\u00e1ja megtal\u00e1lhat\u00f3: [be\u00e1gyazott excel]). A TSO500 vizsg\u00e1lat mindemellett meghat\u00e1rozza a mikroszatellita instabilit\u00e1s (MSI), valamint a tumor mut\u00e1ci\u00f3s terhel\u00e9s (TMB) \u00e9rt\u00e9k\u00e9t is.<\/p>\n

A vizsg\u00e1lat lehet\u0151s\u00e9get biztos\u00edt a ter\u00e1pi\u00e1s relevanci\u00e1val rendelkez\u0151 valamennyi genetikai elt\u00e9r\u00e9s egyidej\u0171 vizsg\u00e1lat\u00e1ra valamennyi tumor eset\u00e9ben \u00e9s eredm\u00e9nye alapj\u00e1n inform\u00e1ci\u00f3 nyerhet\u0151 az egyes biomarker alap\u00fa klinikai vizsg\u00e1latokb\u00f3l \u00e9s off-label c\u00e9lzott ter\u00e1pi\u00e1kb\u00f3l sz\u00e1rmaz\u00f3 potenci\u00e1lis haszonr\u00f3l vagy v\u00e1rhat\u00f3 rezisztenci\u00e1r\u00f3l is. A vizsg\u00e1lat eset\u00e9ben a klinikailag relev\u00e1ns tal\u00e1latok ar\u00e1nya nagym\u00e9rt\u00e9kben f\u00fcgg a daganat sz\u00f6vettani t\u00edpus\u00e1t\u00f3l \u00e9s a kor\u00e1bbi kezel\u00e9si vonalakt\u00f3l, ez\u00e9rt a vizsg\u00e1lat indik\u00e1ci\u00f3j\u00e1nak fel\u00e1ll\u00edt\u00e1s\u00e1ra valamennyi esetben a kezel\u0151orvosnak kell javaslatot tennie, amit az Orsz\u00e1gos Molekul\u00e1ris Tumor Board hagy j\u00f3v\u00e1.<\/p>\n

\"TSO500\"<\/p>\n

M\u00f3dszertan<\/p>\n

A vizsg\u00e1lat sor\u00e1n a betegek formalinban fix\u00e1lt, paraffinba \u00e1gyazott (FFPE) vagy friss fagyasztott tumor mint\u00e1j\u00e1b\u00f3l t\u00f6rt\u00e9nik DNS \u00e9s RNS izol\u00e1l\u00e1s a Qiagen FFPE Tissue Kit (Qiagen, N\u00e9metorsz\u00e1g), valamint a High Pure FFPET RNA Kit (Roche, Sv\u00e1jc) seg\u00edts\u00e9g\u00e9vel. A mint\u00e1k min\u0151s\u00e9g\u00e9nek ellen\u0151rz\u00e9s\u00e9t k\u00f6vet\u0151en ultrahangos fragment\u00e1l\u00e1st v\u00e9gz\u00fcnk a Covaris M220 k\u00e9sz\u00fcl\u00e9ken, majd a szekven\u00e1l\u00e1shoz a mint\u00e1kat a gy\u00e1rt\u00f3 le\u00edr\u00e1sa szerint k\u00e9sz\u00edtj\u00fck el\u0151 c\u00e9lr\u00e9gi\u00f3khoz k\u00f6t\u0151d\u0151 hibridiz\u00e1ci\u00f3s pr\u00f3b\u00e1kon alapul\u00f3 technik\u00e1val. Min\u0151s\u00e9gellen\u0151rz\u00e9st k\u00f6vet\u0151en a mint\u00e1kat a NextSeq2000 (Illumina, USA) \u00faj-gener\u00e1ci\u00f3s platformon szekven\u00e1ljuk meg. A nyers szekven\u00e1l\u00e1si adatokb\u00f3l a TSO-500 LocalApp elnevez\u00e9s\u0171 szoftvercsomag haszn\u00e1lat\u00e1val v\u00e9gezz\u00fck el a vari\u00e1ns h\u00edv\u00e1st, tov\u00e1bb\u00e1 k\u00f3piasz\u00e1m, f\u00fazi\u00f3, illetve splice vari\u00e1ns detekt\u00e1l\u00e1st, majd a tal\u00e1lt genetikai elt\u00e9r\u00e9sek klinikai jelent\u0151s\u00e9g\u00e9t a Qiagen Clinical Insight (Qiagen, N\u00e9metorsz\u00e1g), valamint a PierianDx Comprehensive Genomic Workspace (PierianDx, USA) ter\u00e1pi\u00e1s d\u00f6nt\u00e9shozatalt t\u00e1mogat\u00f3, manu\u00e1lisan kur\u00e1lt adatb\u00e1zisokon alapul\u00f3 d\u00f6nt\u00e9st\u00e1mogat\u00f3 szoftverek seg\u00edts\u00e9g\u00e9vel hat\u00e1rozzuk meg.<\/p>\n

A vizsg\u00e1lat \u00e1tlagos id\u0151tartama a minta be\u00e9rkez\u00e9s\u00e9t\u0151l a lelet kiad\u00e1s\u00e1ig: 4 h\u00e9t.<\/p>\n

A vizsg\u00e1lat \u00e1ll\u00e1s\u00e1val kapcsolatban kiz\u00e1r\u00f3lag a kezel\u0151orvos r\u00e9sz\u00e9re a TSO500@med.semmelweis-univ.hu<\/a> e-mail c\u00edmre k\u00fcld\u00f6tt k\u00e9rd\u00e9sekre v\u00e1laszolva ny\u00fajtunk t\u00e1j\u00e9koztat\u00e1st.<\/p>\n

Vizsg\u00e1latk\u00e9r\u00e9ssel kapcsolatos seg\u00e9dlet (link)<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Trusight Oncology 500TM \u00a0– Komprehenz\u00edv Genomikai Profiloz\u00e1s A vizsg\u00e1lat le\u00edr\u00e1sa A Trusight Oncology 500TM (TSO500) vizsg\u00e1lat a daganatok kialakul\u00e1s\u00e1hoz vezet\u0151 \u00e9s kezel\u00e9sre adott v\u00e1lasz\u00e1nak szempontj\u00e1b\u00f3l legfontosabb 523 g\u00e9n teljes k\u00f3dol\u00f3 szekvenci\u00e1j\u00e1nak vizsg\u00e1lat\u00e1t v\u00e9gzi el. Tov\u00e1bbi 59 g\u00e9n eset\u00e9ben vizsg\u00e1lja a ter\u00e1pia szempontj\u00e1b\u00f3l jelent\u0151s k\u00f3piasz\u00e1m elt\u00e9r\u00e9seket, valamint 55 g\u00e9n eset\u00e9ben inform\u00e1ci\u00f3t szolg\u00e1ltat a g\u00e9nf\u00fazi\u00f3kr\u00f3l \u00e9s splice-vari\u00e1nsokr\u00f3l …<\/p>\n","protected":false},"author":54,"featured_media":0,"parent":5871,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-7339","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/7339","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/users\/54"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/comments?post=7339"}],"version-history":[{"count":1,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/7339\/revisions"}],"predecessor-version":[{"id":7341,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/7339\/revisions\/7341"}],"up":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/5871"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/media?parent=7339"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/categories?post=7339"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/tags?post=7339"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}