{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T10:43:26Z","timestamp":1698403406800},"reference-count":33,"publisher":"Akademiai Kiado Zrt.","issue":"28","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,7,10]]},"abstract":"<jats:p>A myeloproliferativ betegs\u00e9geket genetikai h\u00e1tter\u00fck alapj\u00e1n\n                    Philadelphia-kromosz\u00f3ma-pozit\u00edv kr\u00f3nikus myeloid leukaemia, illetve\n                    Philadelphia-kromosz\u00f3ma-negat\u00edv klasszikus myeloproliferativ neoplasia\n                    csoportokra bonthatjuk. Az ut\u00f3bbiak h\u00e1tter\u00e9ben a Janus-kin\u00e1z-2 vagy a\n                    calreticulin g\u00e9nek mut\u00e1ci\u00f3i \u00e1llnak. Egy betegben a\n                    Philadelphia-kromosz\u00f3ma-negat\u00edv \u00e9s -pozit\u00edv myeloproliferativ neoplasi\u00e1k\n                    egy\u00fcttes el\u0151fordul\u00e1sa irodalmi ritkas\u00e1gnak sz\u00e1m\u00edt. Munk\u00e1nk sor\u00e1n az elm\u00falt 20 \u00e9v\n                    alatt mintegy 120, kr\u00f3nikus myeloid leukaemi\u00e1s beteg hossz\u00fa t\u00e1v\u00fa k\u00f6vet\u00e9se\n                    kapcs\u00e1n azon betegek klinikum\u00e1t vizsg\u00e1ltuk, akikben\n                    Philadelphia-kromosz\u00f3ma-negat\u00edv myeloproliferativ neoplasi\u00e1t is igazoltunk. A\n                    Philadelphia-kromosz\u00f3ma jelenl\u00e9t\u00e9t klasszikus citogenetikai \u00e9s\/vagy fluoreszcens\n                        <jats:italic>in situ<\/jats:italic> hibridiz\u00e1ci\u00f3val mutattuk ki, majd a k\u00e9pz\u0151d\u00f6tt\n                        <jats:italic>BCR<\/jats:italic>\u2013<jats:italic>ABL1<\/jats:italic> f\u00fazi\u00f3s RNS mennyis\u00e9g\u00e9t\n                    kvantitat\u00edv, val\u00f3s idej\u0171 polimer\u00e1z-l\u00e1ncreakci\u00f3val k\u00f6vett\u00fck. A Janus-kin\u00e1z-2 \u00e9s a\n                    kalretikulin g\u00e9nek mut\u00e1ci\u00f3it szint\u00e9n molekul\u00e1ris genetikai m\u00f3dszerekkel,\n                    mennyis\u00e9gi all\u00e9lspecifikus polimer\u00e1z-l\u00e1ncreakci\u00f3val, illetve fragmensanal\u00edzissel\n                    mutattuk ki. A mut\u00e1ns kl\u00f3nok mennyis\u00e9g\u00e9nek id\u0151beli v\u00e1ltoz\u00e1s\u00e1nak, valamint a\n                    klinikai adatoknak a seg\u00edts\u00e9g\u00e9vel k\u00f6vetkeztett\u00fcnk a betegs\u00e9gek kialakul\u00e1s\u00e1nak\n                    dinamik\u00e1j\u00e1ra. Munk\u00e1nk sor\u00e1n n\u00e9gy, Philadelphia-kromosz\u00f3m\u00e1t \u00e9s a\n                    Janus-kin\u00e1z-2\/calreticulin g\u00e9n mut\u00e1ci\u00f3j\u00e1t is hordoz\u00f3 esetet azonos\u00edtottunk.\n                    Egyes esetekben a kl\u00f3nok vet\u00e9lked\u00e9se, m\u00e1s esetben k\u00f6z\u00f6s kl\u00f3nban egy\u00fcttes\n                    el\u0151fordul\u00e1suk volt megfigyelhet\u0151. Az izol\u00e1lt thrombocytosis a diagn\u00f3ziskor,\n                    valamint a c\u00e9lzott kezel\u00e9s hat\u00e1s\u00e1ra javul\u00f3 genetikai elt\u00e9r\u00e9s mellett a\n                    perziszt\u00e1l\u00f3 vagy a fokoz\u00f3d\u00f3 thrombocytosis h\u00edvhatja fel a figyelmet a k\u00e9t ritka\n                    hematol\u00f3giai betegs\u00e9g t\u00e1rsul\u00e1s\u00e1nak lehet\u0151s\u00e9g\u00e9re. Eseteink felh\u00edvj\u00e1k a figyelmet\n                    arra, hogy a myeloproliferativ neoplasi\u00e1k t\u00e1rsul\u00e1sa kev\u00e9sb\u00e9 ritka, mint ahogy az\n                    irodalmi adatok sugallj\u00e1k. Ha a betegs\u00e9g szokatlan megjelen\u00e9s\u0171, vagy viselked\u00e9se\n                    ezt indokoltt\u00e1 teszi, felmer\u00fclhet a Philadelphia-kromosz\u00f3ma-pozit\u00edv \u00e9s -negat\u00edv\n                    myeloproliferativ neoplasi\u00e1k t\u00e1rsul\u00e1s\u00e1nak gyan\u00faja. Orv Hetil. 2022; 163(28):\n                    1123\u20131129.<\/jats:p>","DOI":"10.1556\/650.2022.32516","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T23:42:30Z","timestamp":1668814950000},"page":"1123-1129","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["K\u00e9t myeloproliferativ betegs\u00e9g egy betegben \u2013 kl\u00f3nok egy\u00fctt\u00e9l\u00e9se \u00e9s vet\u00e9lked\u00e9se"],"prefix":"10.1556","volume":"163","author":[{"given":"S\u00e1ndor","family":"Fekete","sequence":"first","affiliation":[{"name":"D\u00e9l-pesti Centrumk\u00f3rh\u00e1z, Orsz\u00e1gos Hematol\u00f3giai \u00e9s Infektol\u00f3giai Int\u00e9zet, Hematol\u00f3giai \u00e9s \u0150ssejt-transzplant\u00e1ci\u00f3s Oszt\u00e1ly Budapest, Albert Fl\u00f3ri\u00e1n \u00fat 5\u20137., 1097 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Reichardt","sequence":"additional","affiliation":[{"name":"D\u00e9l-pesti Centrumk\u00f3rh\u00e1z, Orsz\u00e1gos Hematol\u00f3giai \u00e9s Infektol\u00f3giai Int\u00e9zet, Hematol\u00f3giai \u00e9s \u0150ssejt-transzplant\u00e1ci\u00f3s Oszt\u00e1ly Budapest, Albert Fl\u00f3ri\u00e1n \u00fat 5\u20137., 1097 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e1s","family":"Kozma","sequence":"additional","affiliation":[{"name":"D\u00e9l-pesti Centrumk\u00f3rh\u00e1z, Orsz\u00e1gos Hematol\u00f3giai \u00e9s Infektol\u00f3giai Int\u00e9zet, Molekul\u00e1ris Genetikai Laborat\u00f3rium Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Kap\u00f3cs","sequence":"additional","affiliation":[{"name":"D\u00e9l-pesti Centrumk\u00f3rh\u00e1z, Orsz\u00e1gos Hematol\u00f3giai \u00e9s Infektol\u00f3giai Int\u00e9zet, Molekul\u00e1ris Genetikai Laborat\u00f3rium Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00f3ra","family":"Meggyesi","sequence":"additional","affiliation":[{"name":"D\u00e9l-pesti Centrumk\u00f3rh\u00e1z, Orsz\u00e1gos Hematol\u00f3giai \u00e9s Infektol\u00f3giai Int\u00e9zet, Molekul\u00e1ris Genetikai Laborat\u00f3rium Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1182\/blood.V6.4.372.372","article-title":"Some speculations on the myeloproliferative syndromes (editorial)","volume":"6","author":"1 Dameshek","year":"1951","unstructured":"1 Dameshek W. 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