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M\u00e9gis n\u00e9h\u00e1ny havonta\n                    tal\u00e1lkozunk olyan betegekkel a Magyar Gyermekonkol\u00f3giai H\u00e1l\u00f3zat k\u00f6tel\u00e9k\u00e9be\n                    tartoz\u00f3 gyermekhematol\u00f3giai centrumokban, akikn\u00e9l t\u00f6bbsz\u00f6ri csontvel\u0151i\n                    mintav\u00e9tel \u00e9s sz\u00e9les k\u00f6r\u0171 laborat\u00f3riumi hematol\u00f3giai kivizsg\u00e1l\u00e1s sem vezet\n                    diagn\u00f3zishoz, a cytopenia pedig kr\u00f3nikusan fenn\u00e1ll. A korszer\u0171\n                    ter\u00e1piatervez\u00e9shez ezekben az esetekben elengedhetetlen a genetikailag\n                    determin\u00e1lt benignus vagy praemalignus hematol\u00f3giai k\u00f3r\u00e1llapotok \u2013 mint p\u00e9ld\u00e1ul\n                    congenitalis neutropeni\u00e1k, hereditaer haemolyticus vagy dyserythropoeticus\n                    anaemi\u00e1k, \u00f6r\u00f6kletes thrombocytopeni\u00e1k, \u00f6r\u00f6kletes csontvel\u0151-el\u00e9gtelens\u00e9gi\n                    szindr\u00f3m\u00e1k \u2013 meg\u00e1llap\u00edt\u00e1sa vagy kiz\u00e1r\u00e1sa. A helyesen szelekt\u00e1lt kr\u00f3nikus\n                    cytopeni\u00e1s gyermekpopul\u00e1ci\u00f3ban a modern, \u00fajgener\u00e1ci\u00f3s szekven\u00e1l\u00e1sra \u00e9p\u00fcl\u0151, nagy\n                    \u00e1tereszt\u0151k\u00e9pess\u00e9g\u0171 molekul\u00e1ris genetikai vizsg\u00e1lat a legink\u00e1bb k\u00f6lts\u00e9ghat\u00e9kony\n                    diagnosztikus megold\u00e1s, amelynek korai alkalmaz\u00e1s\u00e1val sz\u00e1mos invaz\u00edv beavatkoz\u00e1s\n                    \u00e9s nem megfelel\u0151 ter\u00e1pi\u00e1s pr\u00f3b\u00e1lkoz\u00e1s elker\u00fclhet\u0151. A Semmelweis Egyetem\n                    kezdem\u00e9nyez\u00e9s\u00e9re nemzeti szinten szervezett molekul\u00e1ris g\u00e9ndiagnosztikai\n                    programot ind\u00edtottunk a gyermekkori \u00f6r\u00f6kletes kr\u00f3nikus cytopeni\u00e1k hazai\n                    etiol\u00f3giai, epidemiol\u00f3giai \u00e9s prognosztikai felt\u00e9rk\u00e9pez\u00e9s\u00e9re. Jelen\n                    k\u00f6zlem\u00e9ny\u00fcnkben a vizsg\u00e1lati modalit\u00e1s technikai r\u00e9szleteit \u00e9s a klinikai\n                    gyakorlatban javaslatunk szerint alkalmazand\u00f3 indik\u00e1ci\u00f3s k\u00f6reit \u00f6sszegezz\u00fck.\n                    Koncepci\u00f3nk igazol\u00e1sak\u00e9nt bemutatunk az indik\u00e1ci\u00f3s k\u00f6r\u00f6k szerint kiv\u00e1lasztott,\n                    30 betegb\u0151l \u00e1ll\u00f3 mintapopul\u00e1ci\u00f3t: k\u00f6z\u00f6tt\u00fck 67%-ban a fenot\u00edpust legal\u00e1bb r\u00e9szben\n                    magyar\u00e1z\u00f3, 47%-ban az eredetileg a kezel\u0151orvos \u00e1ltal felt\u00e9telezett diagn\u00f3zist\n                    revide\u00e1l\u00f3, 43%-ban pedig a k\u00f6vetkez\u0151 \u00e9rdemi ter\u00e1pi\u00e1s d\u00f6nt\u00e9st meghat\u00e1roz\u00f3\n                    g\u00e9nelt\u00e9r\u00e9st azonos\u00edtottunk. Ezek 45%-a volt val\u00f3sz\u00edn\u0171leg patog\u00e9n vagy patog\u00e9n\n                    aberr\u00e1ci\u00f3, 55%-a pedig ismeretlen klinikai szignifikanci\u00e1j\u00fa vari\u00e1ns. A jelent\u0151s\n                    klinikai hasznot gener\u00e1l\u00f3, k\u00f6zlem\u00e9ny\u00fcnkben bemutatott saj\u00e1t \u00e9s nemzetk\u00f6zi adatok\n                    szerint is nagy tal\u00e1lati ar\u00e1nnyal jellemezhet\u0151 nagy \u00e1tereszt\u0151k\u00e9pess\u00e9g\u0171\n                    molekul\u00e1ris genetikai modalit\u00e1st szab\u00e1lyozott szakmai keretek k\u00f6z\u00f6tt a\n                    gyermekhematol\u00f3giai kivizsg\u00e1l\u00e1s haz\u00e1nkban is el\u00e9rhet\u0151, kiemelt elemek\u00e9nt\n                    javasoljuk sz\u00e1mba venni \u00e9s alkalmazni a j\u00f6v\u0151ben. Orv Hetil. 2025; 166(1):\n                    3\u201319.<\/jats:p>","DOI":"10.1556\/650.2025.33196","type":"journal-article","created":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T11:39:31Z","timestamp":1736077171000},"page":"3-19","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["A genetikai eredet\u0171 gyermekkori kr\u00f3nikus cytopeni\u00e1k felismer\u00e9se a molekul\u00e1ris medicina \u00e9r\u00e1j\u00e1ban"],"prefix":"10.1556","volume":"166","author":[{"given":"B\u00e1lint","family":"Egyed","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, T\u0171zolt\u00f3 utca 7\u20139., 1094 Magyarorsz\u00e1g"},{"name":"HCEMM\u2013SE Molekul\u00e1ris Onkohematol\u00f3gia \u00e9s MTA\u2013SE Lend\u00fclet Molekul\u00e1ris Onkohematol\u00f3gia Kutat\u00f3csoport, Semmelweis Egyetem, 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