{"id":61663,"date":"2024-10-03T14:18:18","date_gmt":"2024-10-03T11:18:18","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&#038;p=61663"},"modified":"2026-03-12T11:37:50","modified_gmt":"2026-03-12T09:37:50","slug":"profil-genetic-de-evaluare-risc-cancer-gastrointestinal-ereditar","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/profil-genetic-de-evaluare-risc-cancer-gastrointestinal-ereditar\/","title":{"rendered":"\u0413\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u043f\u0440\u043e\u0444\u0438\u043b\u044c \u043e\u0446\u0435\u043d\u043a\u0438 \u0440\u0438\u0441\u043a\u0430 \u043d\u0430\u0441\u043b\u0435\u0434\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0433\u043e \u0440\u0430\u043a\u0430 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u043e-\u043a\u0438\u0448\u0435\u0447\u043d\u043e\u0433\u043e \u0442\u0440\u0430\u043a\u0442\u0430"},"content":{"rendered":"<h4 data-asw-org-font-size=\"20\"><span data-asw-org-font-size=\"20\">Informa\u021bii generale: Profil genetic\u00a0 de evaluare risc cancer gastrointestinal ereditar<\/span><\/h4>\n<p><strong>TUMORI GASTROINTESTINALE<\/strong><\/p>\n<p data-asw-org-font-size=\"16\">Gene: APC, BMPR1A, CDH1, CTNNA1, EPCAM*, KIT, MLH1, MSH2, MSH6, MUTYH, PDGFRA, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11<\/p>\n<p data-asw-org-font-size=\"16\">SINDROM DE POLIPOZ\u0102 JUVENIL\u0102<\/p>\n<p data-asw-org-font-size=\"16\">Context \u0219tiin\u021bific<\/p>\n<p data-asw-org-font-size=\"16\">Sindromul de polipoz\u0103 juvenil\u0103 (JPS) este o boal\u0103 ereditar\u0103 rar\u0103, a tractului gastrointestinal (GI), \u00a0(inciden\u021b\u0103 1:16.000 &#8211; 1:100.000), cu transmitere autozomal dominanta, caracterizata prin prezen\u021ba polipilor juvenili (hamartomato\u0219i) (&gt;\u00a05 \u00een regiunea colorectal\u0103 p\u00e2n\u0103 la polipi multipli \u00een \u00eentregul tract gastrointestinal). 75% dintre pacien\u021bi au antecedente heredocolaterale pozitive. Din punct de vedere clinic, JPS este considerat cert dac\u0103 este \u00eendeplinit unul dintre urm\u0103toarele criterii:<\/p>\n<ul>\n<li data-asw-org-font-size=\"16\">pacient cu numero\u0219i (&gt;\u00a05) polipi juvenili \u00een colon\/rect \u0219i\/sau<\/li>\n<li data-asw-org-font-size=\"16\">pacient cu polipi juvenili \u00een colon\/rect \u0219i antecedente heredocolaterale pozitive \u0219i\/sau<\/li>\n<li data-asw-org-font-size=\"16\">pacient cu polipi juvenili \u00een \u00eentregul tract gastrointestinal (stomac, intestin sub\u021bire).<\/li>\n<\/ul>\n<p data-asw-org-font-size=\"16\">De\u0219i majoritatea polipilor juvenili sunt benigni, pana la 50% dintre pacien\u021bi pot dezvolta tumori maligne la nivelul tractul gastrointestinal (\u00een principal, stomac, colon, pancreas). Av\u00e2nd \u00een vedere riscul crescut de dezvoltare a acestor tumori \u00een copil\u0103rie \u0219i adolescen\u021b\u0103, este foarte important diagnosticul precoce, fiind necesar\u0103 efectuarea de controale endoscopice regulate.<\/p>\n<p data-asw-org-font-size=\"16\">Cauza molecular\u0103 este reprezentat\u0103 la aproximativ 60% dintre pacien\u021bi de o variant\u0103 patogen\u0103 \u00een genele SMAD4 sau BMPR1A. SMAD4 (cunoscut\u0103 \u0219i sub numele de MADH4, DPC4) este o gen\u0103 supresor tumoral. Proteina exprimat\u0103 de aceat\u0103 gen\u0103 joac\u0103 un rol important \u00een transformarea transduc\u021biei semnalului \u00df al factorului de cre\u0219tere. Gena BMPR1A (receptorul de proteine morfogenetice osoase 1A), codific\u0103 un receptor serin\/treonin-kinazic de tip I din super-familia TGF\u00df.<\/p>\n<p data-asw-org-font-size=\"16\">Transduc\u021bia semnalului BMP este mediat\u0103 de SMAD4 de la receptorul de suprafa\u021b\u0103 BMPR1A. O corela\u021bie genotip-fenotip \u00eentre variantele patogene SMAD4 sau BMPR1A \u0219i simptomele clinice este posibil\u0103 doar \u00eentr-o m\u0103sur\u0103 foarte limitat\u0103. Propor\u021bia de dele\u021bii de segmente genice mai mari \u00een ambele gene este de p\u00e2n\u0103 la 15%. \u00cen cazuri individuale, variantele patogene din gena PTEN (sindromul tumoral al hamartomului PTEN) pot fi detectate la pacien\u021bii cu simptome asem\u0103n\u0103toare JPS.<\/p>\n<h4 data-asw-org-font-size=\"20\"><strong>Preg\u0103tire pacient <\/strong><\/h4>\n<p data-asw-org-font-size=\"16\">nu este necesar\u0103 o pregatire special\u0103<\/p>\n<p data-asw-org-font-size=\"16\"><strong>Specimen recoltat <\/strong>\u2013 s\u00e2nge venos<\/p>\n<p data-asw-org-font-size=\"16\"><strong>Recipient de recoltare<\/strong> \u2013 vacutainer ce con\u0163ine EDTA ca anticoagulant<\/p>\n<p data-asw-org-font-size=\"16\"><strong>Cauze de respingere a probei<\/strong> \u2013 folosirea heparinei ca anticoagulant; probe coagulate sau hemolizate<\/p>\n<p data-asw-org-font-size=\"16\"><strong>Stabilitate prob\u0103 <\/strong>\u2013 7 zile la 2-8<sup>o<\/sup>\u0412<\/p>\n<p data-asw-org-font-size=\"16\">\n<h4 data-asw-org-font-size=\"20\"><strong>Referin\u021be:\u00a0<\/strong><\/h4>\n<p data-asw-org-font-size=\"16\">Cohen et al. 2019, J Pediatr Gastroenterol Nutr 68:453 \/ Valle et al. 2019, J Pathol247(5):574 \/ Cichy et al. 2014, ArchMedSci 10:560 \/ Jelsing et al. 2014, Orphanet Journal of Rare Disease 9:101 \/ Yang et al. 2010, Dig Dis Sci 55:3458 \/ Calva-Cerqueira et al. 2009, Clin Genet 75:79 \/ van Hatten et al. 2008, Gut 57:623 \/ Aretz et al. 2007, J Med Genet 44:702 \/ Pyatt et al. 2006, J Mol Diagn 8:84 \/ Howe et al. 2004, J Med Genet 41:484 \/ Friedl et al. 2002, Hum Genet 111:108 \/ Sayed et al. 2002, Ann Surg Oncol 9:901<\/p>","protected":false},"excerpt":{"rendered":"<p>\u0421\u0438\u043d\u0434\u0440\u043e\u043c \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u043e\u0433\u043e \u043f\u043e\u043b\u0438\u043f\u043e\u0437\u0430 (JPS) \u2013 \u0440\u0435\u0434\u043a\u043e\u0435 \u043d\u0430\u0441\u043b\u0435\u0434\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0435 \u0437\u0430\u0431\u043e\u043b\u0435\u0432\u0430\u043d\u0438\u0435 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u043e-\u043a\u0438\u0448\u0435\u0447\u043d\u043e\u0433\u043e \u0442\u0440\u0430\u043a\u0442\u0430 (\u0416\u041a\u0422) (\u0437\u0430\u0431\u043e\u043b\u0435\u0432\u0430\u0435\u043c\u043e\u0441\u0442\u044c 1:16 000-1:100 000) \u0441 \u0430\u0443\u0442\u043e\u0441\u043e\u043c\u043d\u043e-\u0434\u043e\u043c\u0438\u043d\u0430\u043d\u0442\u043d\u043e\u0439 \u043f\u0435\u0440\u0435\u0434\u0430\u0447\u0435\u0439, \u0445\u0430\u0440\u0430\u043a\u0442\u0435\u0440\u0438\u0437\u0443\u044e\u0449\u0435\u0435\u0441\u044f \u043d\u0430\u043b\u0438\u0447\u0438\u0435\u043c \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u044b\u0445 \u043f\u043e\u043b\u0438\u043f\u043e\u0432 (\u0433\u0430\u043c\u0430\u0440\u0442\u043e\u043c\u0430\u0442\u043e\u0437\u043d\u044b\u0445) (&gt;5 \u0432 \u043a\u043e\u043b\u043e\u0440\u0435\u043a\u0442\u0430\u043b\u044c\u043d\u043e\u0439 \u043e\u0431\u043b\u0430\u0441\u0442\u0438 \u0434\u043e \u043c\u043d\u043e\u0436\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0445 \u043f\u043e\u043b\u0438\u043f\u043e\u0432 \u043f\u043e \u0432\u0441\u0435\u043c\u0443 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u043e-\u043a\u0438\u0448\u0435\u0447\u043d\u043e\u043c\u0443 \u0442\u0440\u0430\u043a\u0442\u0443). 75% \u043f\u0430\u0446\u0438\u0435\u043d\u0442\u043e\u0432 \u0438\u043c\u0435\u044e\u0442 heredocolateral \u043f\u043e\u043b\u043e\u0436\u0438\u0442\u0435\u043b\u044c\u043d\u044b\u0439 \u0430\u043d\u0430\u043c\u043d\u0435\u0437. \u041a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438 JPS \u0441\u0447\u0438\u0442\u0430\u0435\u0442\u0441\u044f \u043e\u043f\u0440\u0435\u0434\u0435\u043b\u0435\u043d\u043d\u044b\u043c, \u0435\u0441\u043b\u0438 \u043e\u0434\u0438\u043d \u0438\u0437 \u0441\u043b\u0435\u0434\u0443\u044e\u0449\u0438\u0445 \u043a\u0440\u0438\u0442\u0435\u0440\u0438\u0435\u0432 \u0443\u0434\u043e\u0432\u043b\u0435\u0442\u0432\u043e\u0440\u0435\u043d:<\/p>\n<ul>\n<li>\u043f\u0430\u0446\u0438\u0435\u043d\u0442 \u0441 \u043c\u043d\u043e\u0433\u043e\u0447\u0438\u0441\u043b\u0435\u043d\u043d\u044b\u043c\u0438 (&gt;5) \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u044b\u043c\u0438 \u043f\u043e\u043b\u0438\u043f\u0430\u043c\u0438 \u0432 \u0442\u043e\u043b\u0441\u0442\u043e\u0439\/\u043f\u0440\u044f\u043c\u043e\u0439 \u043a\u0438\u0448\u043a\u0435 \u0438\/\u0438\u043b\u0438<\/li>\n<li>\u043f\u0430\u0446\u0438\u0435\u043d\u0442 \u0441 \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u044b\u043c\u0438 \u043f\u043e\u043b\u0438\u043f\u0430\u043c\u0438 \u0432 \u0442\u043e\u043b\u0441\u0442\u043e\u0439\/\u043f\u0440\u044f\u043c\u043e\u0439 \u043a\u0438\u0448\u043a\u0435 \u0438 heredocolateral \u043f\u043e\u043b\u043e\u0436\u0438\u0442\u0435\u043b\u044c\u043d\u044b\u0439 \u0438\/\u0438\u043b\u0438 \u0430\u043d\u0430\u043c\u043d\u0435\u0437<\/li>\n<li>\u043f\u0430\u0446\u0438\u0435\u043d\u0442 \u0441 \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u044b\u043c\u0438 \u043f\u043e\u043b\u0438\u043f\u0430\u043c\u0438 \u043f\u043e \u0432\u0441\u0435\u043c\u0443 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u043e-\u043a\u0438\u0448\u0435\u0447\u043d\u043e\u043c\u0443 \u0442\u0440\u0430\u043a\u0442\u0443 (\u0436\u0435\u043b\u0443\u0434\u043e\u043a, \u0442\u043e\u043d\u043a\u0438\u0439 \u043a\u0438\u0448\u0435\u0447\u043d\u0438\u043a).<\/li>\n<\/ul>\n<p>\u0425\u043e\u0442\u044f \u0431\u043e\u043b\u044c\u0448\u0438\u043d\u0441\u0442\u0432\u043e \u044e\u0432\u0435\u043d\u0438\u043b\u044c\u043d\u044b\u0445 \u043f\u043e\u043b\u0438\u043f\u043e\u0432 \u0434\u043e\u0431\u0440\u043e\u043a\u0430\u0447\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0435, \u0434\u043e 50% \u043f\u0430\u0446\u0438\u0435\u043d\u0442\u043e\u0432 \u043c\u043e\u0433\u0443\u0442 \u0440\u0430\u0437\u0432\u0438\u0432\u0430\u0442\u044c\u0441\u044f \u0437\u043b\u043e\u043a\u0430\u0447\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0435 \u043e\u043f\u0443\u0445\u043e\u043b\u0438 \u0432 \u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u043e-\u043a\u0438\u0448\u0435\u0447\u043d\u044b\u0439 \u0442\u0440\u0430\u043a\u0442 (\u0432 \u043e\u0441\u043d\u043e\u0432\u043d\u043e\u043c \u0436\u0435\u043b\u0443\u0434\u043e\u043a, \u0442\u043e\u043b\u0441\u0442\u0430\u044f \u043a\u0438\u0448\u043a\u0430, \u043f\u043e\u0434\u0436\u0435\u043b\u0443\u0434\u043e\u0447\u043d\u0430\u044f \u0436\u0435\u043b\u0435\u0437\u0430). \u0423\u0447\u0438\u0442\u044b\u0432\u0430\u044f \u043f\u043e\u0432\u044b\u0448\u0435\u043d\u043d\u044b\u0439 \u0440\u0438\u0441\u043a \u0440\u0430\u0437\u0432\u0438\u0442\u0438\u044f \u044d\u0442\u0438\u0445 \u043e\u043f\u0443\u0445\u043e\u043b\u0435\u0439 \u0432 \u0434\u0435\u0442\u0441\u0442\u0432\u0435 \u0438 \u043f\u043e\u0434\u0440\u043e\u0441\u0442\u043a\u043e\u0432\u043e\u043c \u0432\u043e\u0437\u0440\u0430\u0441\u0442\u0435, \u043e\u0447\u0435\u043d\u044c \u0432\u0430\u0436\u043d\u0430 \u0440\u0430\u043d\u043d\u044f\u044f \u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0430, \u043f\u043e\u044d\u0442\u043e\u043c\u0443 \u043d\u0435\u043e\u0431\u0445\u043e\u0434\u0438\u043c\u043e \u043f\u0440\u043e\u0432\u043e\u0434\u0438\u0442\u044c \u0440\u0435\u0433\u0443\u043b\u044f\u0440\u043d\u044b\u0435 \u044d\u043d\u0434\u043e\u0441\u043a\u043e\u043f\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u043e\u0441\u043c\u043e\u0442\u0440\u044b.<\/p>\n<p>\u041c\u043e\u043b\u0435\u043a\u0443\u043b\u044f\u0440\u043d\u0430\u044f \u043f\u0440\u0438\u0447\u0438\u043d\u0430 \u043f\u0440\u0435\u0434\u0441\u0442\u0430\u0432\u043b\u0435\u043d\u0430 \u043f\u0440\u0438\u043c\u0435\u0440\u043d\u043e \u0443 60% \u043f\u0430\u0446\u0438\u0435\u043d\u0442\u043e\u0432 \u043f\u0430\u0442\u043e\u0433\u0435\u043d\u043d\u044b\u043c \u0432\u0430\u0440\u0438\u0430\u043d\u0442\u043e\u043c \u0432 \u0433\u0435\u043d\u0430\u0445 SMAD4 \u0438\u043b\u0438 BMPR1A. SMAD4 (\u0442\u0430\u043a\u0436\u0435 \u0438\u0437\u0432\u0435\u0441\u0442\u043d\u044b\u0439 \u043a\u0430\u043a MADH4, DPC4) \u044f\u0432\u043b\u044f\u0435\u0442\u0441\u044f \u0433\u0435\u043d\u043e\u043c-\u0441\u0443\u043f\u0440\u0435\u0441\u0441\u043e\u0440\u043e\u043c \u043e\u043f\u0443\u0445\u043e\u043b\u0438. \u0411\u0435\u043b\u043e\u043a, \u044d\u043a\u0441\u043f\u0440\u0435\u0441\u0441\u0438\u0440\u0443\u0435\u043c\u044b\u0439 \u044d\u0442\u0438\u043c \u0433\u0435\u043d\u043e\u043c, \u0438\u0433\u0440\u0430\u0435\u0442 \u0432\u0430\u0436\u043d\u0443\u044e \u0440\u043e\u043b\u044c \u0432 \u043f\u0440\u0435\u043e\u0431\u0440\u0430\u0437\u043e\u0432\u0430\u043d\u0438\u0438 \u0442\u0440\u0430\u043d\u0441\u0434\u0443\u043a\u0446\u0438\u0438 \u03b2-\u0441\u0438\u0433\u043d\u0430\u043b\u0430 \u0444\u0430\u043a\u0442\u043e\u0440\u0430 \u0440\u043e\u0441\u0442\u0430. \u0413\u0435\u043d BMPR1A (\u043a\u043e\u0441\u0442\u043d\u044b\u0439 \u043c\u043e\u0440\u0444\u043e\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u0431\u0435\u043b\u043a\u043e\u0432\u044b\u0439 \u0440\u0435\u0446\u0435\u043f\u0442\u043e\u0440 1A) \u043a\u043e\u0434\u0438\u0440\u0443\u0435\u0442 \u0421\u0435\u0440\u0438\u043d\/\u0442\u0440\u0435\u043e\u043d\u0438\u043d\u043a\u0438\u043d\u0430\u0437\u043d\u044b\u0439 \u0440\u0435\u0446\u0435\u043f\u0442\u043e\u0440 I \u0442\u0438\u043f\u0430 \u0438\u0437 \u0441\u0443\u043f\u0435\u0440\u0441\u0435\u043c\u0435\u0439\u0441\u0442\u0432\u0430 Tgf\u03b2. \u041f\u0435\u0440\u0435\u0434\u0430\u0447\u0430 \u0441\u0438\u0433\u043d\u0430\u043b\u0430 BMP \u043e\u043f\u043e\u0441\u0440\u0435\u0434\u0443\u0435\u0442\u0441\u044f SMAD4 \u043e\u0442 \u043f\u043e\u0432\u0435\u0440\u0445\u043d\u043e\u0441\u0442\u043d\u043e\u0433\u043e \u043f\u0440\u0438\u0435\u043c\u043d\u0438\u043a\u0430 BMPR1A. \u041a\u043e\u0440\u0440\u0435\u043b\u044f\u0446\u0438\u044f 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