. "Nedomov\u00E1, Radka" . . . "Cytogenetika a molekul\u00E1rn\u00ED cytogenetika v diagnostice a stanoven\u00ED progn\u00F3zy myeloproliferativn\u00EDch neopl\u00E1zi\u00ED"@cs . "7"^^ . . "[0E07F6485899]" . . "Mi\u010Dkov\u00E1, Pavla" . . . . "Holzerov\u00E1, Milena" . . "6"^^ . "trisomy; FISH; cytogenetics; chromosome changes; myeloproliferatives neopasias"@en . . "Myeloproliferativn\u00ED neopl\u00E1zie (MPN) p\u0159edstavuj\u00ED skupinu klon\u00E1ln\u00EDch onemocn\u011Bn\u00ED hematopoetick\u00E9 kmenov\u00E9 bu\u0148ky s fenotypick\u00FDmi zm\u011Bnami, kter\u00E9 jsou d\u016Fsledkem zv\u00FD\u0161en\u00E9 myeloidn\u00ED proliferace se zachovanou maturac\u00ED a akumulac\u00ED myeloidn\u00EDch bun\u011Bk v perifern\u00ED krvi: leukocyt\u00F3zou, trombocyt\u00F3zou a zv\u00FD\u0161en\u00FDm po\u010Dtem \u010Derven\u00FDch krvinek nebo r\u016Fznou kombinac\u00ED proliferace jednotliv\u00FDch bun\u011B\u010Dn\u00FDch lini\u00ED. Cytogenetick\u00E9 anal\u00FDzy odhalily opakuj\u00EDc\u00ED se chromozomov\u00E9 zm\u011Bny u 5-45% nemocn\u00FDch, ale specifick\u00E1 chromozomov\u00E1 zm\u011Bna zat\u00EDm nebyla nalezena. K \u010Dast\u00FDm chromozomov\u00FDm zm\u011Bn\u00E1m, kter\u00E9 u MPN nach\u00E1z\u00EDme, pat\u0159\u00ED p\u0159edev\u0161\u00EDm ztr\u00E1ty genetick\u00E9ho materi\u00E1lu v podob\u011B delec\u00ED dlouh\u00FDch ramen chromozomu 20 (20q-), dlouh\u00FDch ramen chromozomu 13 (13q-) a delece kr\u00E1tk\u00FDch ramen chromozomu 12 (12p-). Zmno\u017Een\u00ED genetick\u00E9ho materi\u00E1lu se t\u00FDk\u00E1 p\u0159edev\u0161\u00EDm trisomi\u00ED chromozom\u016F 8 (+8) a 9 (+9) a parci\u00E1ln\u00EDch duplikac\u00ED dlouh\u00FDch ramen chromozomu 1 (1q+). K dal\u0161\u00EDm pozorovan\u00FDm zm\u011Bn\u00E1m pat\u0159\u00ED balancovan\u00E9 translokace, nap\u0159\u00EDklad chromozomu 8 s r\u016Fzn\u00FDmi chromozomov\u00FDmi partnery. Takov\u00FD n\u00E1lez je ozna\u010Dov\u00E1n jako syndrom 8p11 (EMS - eight myeloproliferative syndrome) a v\u017Edy zahrnuje gen FGFR1. Cytogenetika dopln\u011Bn\u00E1 molekul\u00E1rn\u011B cytogenetick\u00FDmi a genetick\u00FDmi metodami dopl\u0148uje diagnostiku MPN, ale m\u00E1 v\u00FDznam i pro stanoven\u00ED progn\u00F3zy. Ur\u010Den\u00ED p\u0159estavby FIP1L1/PDGFRA u nemocn\u00FDch s MPN s eosinof\u00EDli\u00ED umo\u017E\u0148uje zah\u00E1jit efektivn\u00ED c\u00EDlenou l\u00E9\u010Dbu imatinibem. P\u0159esn\u00E9 ur\u010Den\u00ED genetick\u00FDch zm\u011Bn umo\u017E\u0148uje porozum\u011Bt molekul\u00E1rn\u00ED etiopatogenezi MPN a p\u0159isp\u00EDv\u00E1 ke zp\u0159esn\u011Bn\u00ED klasifikace, progn\u00F3zy a personalizace l\u00E9\u010Dby nemocn\u00FDch."@cs . "Myeloproliferativn\u00ED neopl\u00E1zie (MPN) p\u0159edstavuj\u00ED skupinu klon\u00E1ln\u00EDch onemocn\u011Bn\u00ED hematopoetick\u00E9 kmenov\u00E9 bu\u0148ky s fenotypick\u00FDmi zm\u011Bnami, kter\u00E9 jsou d\u016Fsledkem zv\u00FD\u0161en\u00E9 myeloidn\u00ED proliferace se zachovanou maturac\u00ED a akumulac\u00ED myeloidn\u00EDch bun\u011Bk v perifern\u00ED krvi: leukocyt\u00F3zou, trombocyt\u00F3zou a zv\u00FD\u0161en\u00FDm po\u010Dtem \u010Derven\u00FDch krvinek nebo r\u016Fznou kombinac\u00ED proliferace jednotliv\u00FDch bun\u011B\u010Dn\u00FDch lini\u00ED. Cytogenetick\u00E9 anal\u00FDzy odhalily opakuj\u00EDc\u00ED se chromozomov\u00E9 zm\u011Bny u 5-45% nemocn\u00FDch, ale specifick\u00E1 chromozomov\u00E1 zm\u011Bna zat\u00EDm nebyla nalezena. K \u010Dast\u00FDm chromozomov\u00FDm zm\u011Bn\u00E1m, kter\u00E9 u MPN nach\u00E1z\u00EDme, pat\u0159\u00ED p\u0159edev\u0161\u00EDm ztr\u00E1ty genetick\u00E9ho materi\u00E1lu v podob\u011B delec\u00ED dlouh\u00FDch ramen chromozomu 20 (20q-), dlouh\u00FDch ramen chromozomu 13 (13q-) a delece kr\u00E1tk\u00FDch ramen chromozomu 12 (12p-). Zmno\u017Een\u00ED genetick\u00E9ho materi\u00E1lu se t\u00FDk\u00E1 p\u0159edev\u0161\u00EDm trisomi\u00ED chromozom\u016F 8 (+8) a 9 (+9) a parci\u00E1ln\u00EDch duplikac\u00ED dlouh\u00FDch ramen chromozomu 1 (1q+). K dal\u0161\u00EDm pozorovan\u00FDm zm\u011Bn\u00E1m pat\u0159\u00ED balancovan\u00E9 translokace, nap\u0159\u00EDklad chromozomu 8 s r\u016Fzn\u00FDmi chromozomov\u00FDmi partnery. Takov\u00FD n\u00E1lez je ozna\u010Dov\u00E1n jako syndrom 8p11 (EMS - eight myeloproliferative syndrome) a v\u017Edy zahrnuje gen FGFR1. Cytogenetika dopln\u011Bn\u00E1 molekul\u00E1rn\u011B cytogenetick\u00FDmi a genetick\u00FDmi metodami dopl\u0148uje diagnostiku MPN, ale m\u00E1 v\u00FDznam i pro stanoven\u00ED progn\u00F3zy. Ur\u010Den\u00ED p\u0159estavby FIP1L1/PDGFRA u nemocn\u00FDch s MPN s eosinof\u00EDli\u00ED umo\u017E\u0148uje zah\u00E1jit efektivn\u00ED c\u00EDlenou l\u00E9\u010Dbu imatinibem. P\u0159esn\u00E9 ur\u010Den\u00ED genetick\u00FDch zm\u011Bn umo\u017E\u0148uje porozum\u011Bt molekul\u00E1rn\u00ED etiopatogenezi MPN a p\u0159isp\u00EDv\u00E1 ke zp\u0159esn\u011Bn\u00ED klasifikace, progn\u00F3zy a personalizace l\u00E9\u010Dby nemocn\u00FDch." . . "RIV/61989592:15110/12:33140127!RIV13-MSM-15110___" . "Onkologie" . . "6"^^ . "Jaro\u0161ov\u00E1, Marie" . "1802-4475" . . "3" . "S, Z(MSM6198959205)" . "129372" . "6" . "Indr\u00E1k, Karel" . "Cytogenetics and molecular cytogenetics in diagnosis and prognosis og myeloproliferative neoplasms"@en . . . "Hlu\u0161\u00ED, Anton\u00EDn" . "Cytogenetika a molekul\u00E1rn\u00ED cytogenetika v diagnostice a stanoven\u00ED progn\u00F3zy myeloproliferativn\u00EDch neopl\u00E1zi\u00ED" . "Cytogenetics and molecular cytogenetics in diagnosis and prognosis og myeloproliferative neoplasms"@en . "RIV/61989592:15110/12:33140127" . . "15110" . . . . . . . "Cytogenetika a molekul\u00E1rn\u00ED cytogenetika v diagnostice a stanoven\u00ED progn\u00F3zy myeloproliferativn\u00EDch neopl\u00E1zi\u00ED"@cs . . "CZ - \u010Cesk\u00E1 republika" . "Myeloproliferative neoplasias (MPNs) are a group of hematopoetic changes resulting from increased myeloid proliferation with preserved maturation and accumulation of myeloid cells in peripheral blood: leukocytosis, thrombocytosis and increased red blood cell count or their various combinations. Cytogenetic analyses revealed recurrent chromosomal aberrations in 5 - 45% of patients, but so far, a specific chromosomal change has not been found. Frequent chromosomal aberrations observed in MNPs mainly include losses of genetic material such as deletions of the long arms of chromosome 20 (20q-), long arms of chromosome 13 (13q-) and deletions of the short arms of chromosome 12 (12p-). Gains of genetic material are particularly in the form of trisomies of chromosomes 8 (+8) and 9 (+9) and partial duplications of the long arms of chromosome1 (1q+). Other observed changes are balanced translocations, such as those of chromosome 8 with various chromosomal partners. These finding are referred to as the 8p11 myeloproliferative syndrome (EMS), always involving the FGFR1 gene. Cytogenetic analyses supplemented with molecular cytogenetic and genetic nethods play supplementary role in the diagnosis of MPNs but are also contributory prognostic determinants. Recognition of the FIP1L1/PDGFRA rearrangement in patients with NPM with eosinophilia enables initiation of targeted therapy with imatinib, significantly improving their prognosis. Accurate determination of genetic aberrations enables understanding of the molecular etiopathogenesis of MPNs and contributes to more accurate classification and more individual therapy of patients."@en . "Cytogenetika a molekul\u00E1rn\u00ED cytogenetika v diagnostice a stanoven\u00ED progn\u00F3zy myeloproliferativn\u00EDch neopl\u00E1zi\u00ED" . .