. "13"^^ . "Transfuze a hematologie dnes" . "Identifikace nov\u00FDch molekul\u00E1rn\u00EDch marker\u016F pro sledov\u00E1n\u00ED minim\u00E1ln\u00ED rezidu\u00E1ln\u00ED nemoci u akutn\u00EDch leukemi\u00ED" . "13"^^ . "78748" . . . "CZ - \u010Cesk\u00E1 republika" . . "RIV/00216208:11120/13:43907658!RIV14-MSM-11120___" . . "acute leukemia; markers; molecular"@en . "Identifikace nov\u00FDch molekul\u00E1rn\u00EDch marker\u016F pro sledov\u00E1n\u00ED minim\u00E1ln\u00ED rezidu\u00E1ln\u00ED nemoci u akutn\u00EDch leukemi\u00ED"@cs . "Na\u0161\u00EDm c\u00EDlem bylo vyvinout zcela nov\u00FD technick\u00FD p\u0159\u00EDstup k identifikaci a mapov\u00E1n\u00ED unik\u00E1tn\u00EDch klon\u00E1ln\u011B specifick\u00FDch chromozomov\u00FDch abnormalit a\u017E na \u00FArove\u0148 jednotliv\u00FDch nukleotid\u016F, a to pomoc\u00ED modern\u00EDch technik molekul\u00E1rn\u00ED cytogenetiky, zejm\u00E9na mnohobarevn\u00E9 fluorescen\u010Dn\u00ED in situ hybridizace, mnohobarevn\u00E9ho pruhov\u00E1n\u00ED chromozom\u016F (mFISH, mBAND) a multiplexn\u00ED hybridizace fluorescen\u010Dn\u011B zna\u010Den\u00FDch sond (BAC-FISH). Pro vy\u0161\u0161\u00ED rozli\u0161en\u00ED byly fluorescen\u010Dn\u011B zna\u010Den\u00E9 sondy aplikov\u00E1ny na linearizovan\u00E1 vl\u00E1kna DNA (molecular combing, fiber-FISH). Dal\u0161\u00EDm n\u00E1strojem, kter\u00FD byl vyu\u017Eit k p\u0159esn\u00E9 identifikaci zlomov\u00FDch m\u00EDst aberovan\u00FDch chromozom\u016F byla mikrodisekce derivovan\u00FDch chromozom\u016F a n\u00E1sledn\u00E9 sekvenov\u00E1n\u00ED disekovan\u00E9ho materi\u00E1lu pomoc\u00ED technologie sekvenov\u00E1n\u00ED nov\u00E9 generace (NGS). Posledn\u00EDm krokem byla konstrukce specifick\u00E9 molekul\u00E1rn\u00ED PCR eseje v re\u00E1ln\u00E9m \u010Dase pro monitorov\u00E1n\u00ED MRN, kter\u00E1 umo\u017E\u0148uje sledovat odpov\u011B\u010F pacienta na l\u00E9\u010Dbu, p\u0159\u00EDp. v\u010Das zachytit po\u010D\u00EDnaj\u00EDc\u00ED molekul\u00E1rn\u00ED relaps onemocn\u011Bn\u00ED. Modern\u00ED technologie umo\u017E\u0148uj\u00ED detekovat a identifikovat unik\u00E1tn\u00ED klon\u00E1ln\u011B specifick\u00E9 abnormality u pacient\u016F s AL. P\u0159edlo\u017Een\u00E1 pr\u00E1ce jasn\u011B ukazuje, \u017Ee mapov\u00E1n\u00ED chromozomov\u00FDch aberac\u00ED a\u017E na \u00FArove\u0148 nukleotid\u016F je pro vybran\u00E9 pacienty s AL realizovateln\u00E9 a vhodn\u00E9 pro standardn\u00ED klinickou praxi. Jedn\u00E1 se o laboratorn\u00ED p\u0159\u00EDstup \u201E\u0161it\u00FD na m\u00EDru\u201C nemocn\u00FDch s AL, kter\u00FD napl\u0148uje na\u0161i p\u0159edstavu o personalizovan\u00E9 medic\u00EDn\u011B."@cs . "[F3435BC1B9F4]" . . . . . . "1213-5763" . "Identifikace nov\u00FDch molekul\u00E1rn\u00EDch marker\u016F pro sledov\u00E1n\u00ED minim\u00E1ln\u00ED rezidu\u00E1ln\u00ED nemoci u akutn\u00EDch leukemi\u00ED" . "Na\u0161\u00EDm c\u00EDlem bylo vyvinout zcela nov\u00FD technick\u00FD p\u0159\u00EDstup k identifikaci a mapov\u00E1n\u00ED unik\u00E1tn\u00EDch klon\u00E1ln\u011B specifick\u00FDch chromozomov\u00FDch abnormalit a\u017E na \u00FArove\u0148 jednotliv\u00FDch nukleotid\u016F, a to pomoc\u00ED modern\u00EDch technik molekul\u00E1rn\u00ED cytogenetiky, zejm\u00E9na mnohobarevn\u00E9 fluorescen\u010Dn\u00ED in situ hybridizace, mnohobarevn\u00E9ho pruhov\u00E1n\u00ED chromozom\u016F (mFISH, mBAND) a multiplexn\u00ED hybridizace fluorescen\u010Dn\u011B zna\u010Den\u00FDch sond (BAC-FISH). Pro vy\u0161\u0161\u00ED rozli\u0161en\u00ED byly fluorescen\u010Dn\u011B zna\u010Den\u00E9 sondy aplikov\u00E1ny na linearizovan\u00E1 vl\u00E1kna DNA (molecular combing, fiber-FISH). Dal\u0161\u00EDm n\u00E1strojem, kter\u00FD byl vyu\u017Eit k p\u0159esn\u00E9 identifikaci zlomov\u00FDch m\u00EDst aberovan\u00FDch chromozom\u016F byla mikrodisekce derivovan\u00FDch chromozom\u016F a n\u00E1sledn\u00E9 sekvenov\u00E1n\u00ED disekovan\u00E9ho materi\u00E1lu pomoc\u00ED technologie sekvenov\u00E1n\u00ED nov\u00E9 generace (NGS). Posledn\u00EDm krokem byla konstrukce specifick\u00E9 molekul\u00E1rn\u00ED PCR eseje v re\u00E1ln\u00E9m \u010Dase pro monitorov\u00E1n\u00ED MRN, kter\u00E1 umo\u017E\u0148uje sledovat odpov\u011B\u010F pacienta na l\u00E9\u010Dbu, p\u0159\u00EDp. v\u010Das zachytit po\u010D\u00EDnaj\u00EDc\u00ED molekul\u00E1rn\u00ED relaps onemocn\u011Bn\u00ED. Modern\u00ED technologie umo\u017E\u0148uj\u00ED detekovat a identifikovat unik\u00E1tn\u00ED klon\u00E1ln\u011B specifick\u00E9 abnormality u pacient\u016F s AL. P\u0159edlo\u017Een\u00E1 pr\u00E1ce jasn\u011B ukazuje, \u017Ee mapov\u00E1n\u00ED chromozomov\u00FDch aberac\u00ED a\u017E na \u00FArove\u0148 nukleotid\u016F je pro vybran\u00E9 pacienty s AL realizovateln\u00E9 a vhodn\u00E9 pro standardn\u00ED klinickou praxi. Jedn\u00E1 se o laboratorn\u00ED p\u0159\u00EDstup \u201E\u0161it\u00FD na m\u00EDru\u201C nemocn\u00FDch s AL, kter\u00FD napl\u0148uje na\u0161i p\u0159edstavu o personalizovan\u00E9 medic\u00EDn\u011B." . "19" . "S" . "Our goal was to develop a unique technical approach for the identification and mapping of clone-specific chromosomal abnormalities down to the single nucleotide level using current molecular cytogenetic techniques, particularly multicolour fluorescence in situ hybridization, multicolour chromosome banding (mFISH, mBAND) and multiplex hybridization of fluorescently labelled BAC clones (BAC-FISH). Higher resolution was achieved by hybridization of fluorescent probes to combed DNA fibres (molecular combing, fibre-FISH). Another approach used for the precise identification of chromosomal breakpoints was chromosome micro dissection followed by next-generation sequencing (NGS) of the dissected material. Finally, a specific Real-Time PCR assay to monitor MRD was designed. Modern technologies open new vistas for the detection and identification of unique clone-specific abnormalities in AL patients. Our work clearly suggests that mapping from the chromosomal level down to the nucleotide level is feasible and readily applicable in eligible AL patients, allowing its\u00B4 use in standard clinical practice and as a tool for personalized \u201Etailor-made\u201C medicine."@en . "Jan\u010Du\u0161kov\u00E1, Tereza" . . "Pekov\u00E1, So\u0148a" . "RIV/00216208:11120/13:43907658" . . "3"^^ . "Identification of new molecular markers for minimal residual disease assessment in acute leukemia patients"@en . . "11120" . "Identification of new molecular markers for minimal residual disease assessment in acute leukemia patients"@en . "Koz\u00E1k, Tom\u00E1\u0161" . "1" . . . . . "Identifikace nov\u00FDch molekul\u00E1rn\u00EDch marker\u016F pro sledov\u00E1n\u00ED minim\u00E1ln\u00ED rezidu\u00E1ln\u00ED nemoci u akutn\u00EDch leukemi\u00ED"@cs .