. "138840" . . . . "3"^^ . . "1"^^ . "Hlad\u00EDkov\u00E1, A." . "17110" . . "4"^^ . "Hereditary Leiomyomatosis and Renal Cell Cancer - HLRCC / / Multiple Cutaneous and Uterine Leimomyomatosis - MCUL"@en . "CZ - \u010Cesk\u00E1 republika" . "Plevov\u00E1, Pavl\u00EDna" . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom - HLRCC / Mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za - MCUL"@cs . "0862-495X" . "RIV/61988987:17110/12:A13016L1" . . "25" . "Hereditary Leiomyomatosis and Renal Cell Cancer - HLRCC / / Multiple Cutaneous and Uterine Leimomyomatosis - MCUL"@en . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom - HLRCC / Mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za - MCUL" . . . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom - HLRCC / Mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za - MCUL" . "RIV/61988987:17110/12:A13016L1!RIV13-MSM-17110___" . . "Hereditary leiomyomatosis and renal cell cancer / multiple cutaneous and uterine leimomyomatosis is a relatively rare autosomal dominant condition which predisposes to the development of cutaneous and uterine leiomyomas and early-onset renal cell carcinoma, typically papillary carcinoma type II. It is caused by germline mutations in the FH gene encoding the fumarate hydratase enzyme. The test of fumarate hydratase activity in lymphocytes may be used as a screening method with subsequent mutation analysis of the FH gene in persons with reduced enzyme activity. Persons with this syndrome should be followed to detect any occurrence of these diseases. Treatment of renal cancer associated with the hereditary leiomyomatosis and renal cell cancer syndrome should be radical with respect to its aggressive nature."@en . . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom / mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za je relativn\u011B vz\u00E1cn\u00E9 autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED s predispozic\u00ED k tvorb\u011B mnoho\u010Detn\u00FDch ko\u017En\u00EDch a d\u011Blo\u017En\u00EDch leiomyom\u016F a ren\u00E1ln\u00EDho karcinomu, nej\u010Dast\u011Bji papil\u00E1rn\u00EDho karcinomu II. typu. Jeho p\u0159\u00ED\u010Dinou jsou z\u00E1rode\u010Dn\u00E9 mutace genu FH pro fumar\u00E1thydrat\u00E1zu. K vyhled\u00E1v\u00E1n\u00ED p\u0159ena\u0161e\u010D\u016F z\u00E1rode\u010Dn\u00E9 mutace v genu FH lze vyu\u017E\u00EDt stanoven\u00ED aktivity fumar\u00E1thydrat\u00E1zy v lymfocytech s n\u00E1slednou muta\u010Dn\u00ED anal\u00FDzou genu FH u jedinc\u016F se sn\u00ED\u017Eenou aktivitou enzymu. Osoby s touto diagn\u00F3zou by m\u011Bly b\u00FDt sledov\u00E1ny s ohledem na v\u00FDskyt p\u0159\u00EDslu\u0161n\u00FDch onemocn\u011Bn\u00ED. L\u00E9\u010Dba ren\u00E1ln\u00EDho karcinomu u tohoto syndromu by m\u011Bla b\u00FDt radik\u00E1ln\u00ED s ohledem na jeho agresivn\u00ED povahu."@cs . "Tesa\u0159ov\u00E1, M." . "I, V" . . "Klinick\u00E1 onkologie" . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom - HLRCC / Mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za - MCUL"@cs . . "Heredit\u00E1rn\u00ED leiomyomat\u00F3za a ren\u00E1ln\u00ED karcinom / mnoho\u010Detn\u00E1 ko\u017En\u00ED a d\u011Blo\u017En\u00ED leiomyomat\u00F3za je relativn\u011B vz\u00E1cn\u00E9 autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED s predispozic\u00ED k tvorb\u011B mnoho\u010Detn\u00FDch ko\u017En\u00EDch a d\u011Blo\u017En\u00EDch leiomyom\u016F a ren\u00E1ln\u00EDho karcinomu, nej\u010Dast\u011Bji papil\u00E1rn\u00EDho karcinomu II. typu. Jeho p\u0159\u00ED\u010Dinou jsou z\u00E1rode\u010Dn\u00E9 mutace genu FH pro fumar\u00E1thydrat\u00E1zu. K vyhled\u00E1v\u00E1n\u00ED p\u0159ena\u0161e\u010D\u016F z\u00E1rode\u010Dn\u00E9 mutace v genu FH lze vyu\u017E\u00EDt stanoven\u00ED aktivity fumar\u00E1thydrat\u00E1zy v lymfocytech s n\u00E1slednou muta\u010Dn\u00ED anal\u00FDzou genu FH u jedinc\u016F se sn\u00ED\u017Eenou aktivitou enzymu. Osoby s touto diagn\u00F3zou by m\u011Bly b\u00FDt sledov\u00E1ny s ohledem na v\u00FDskyt p\u0159\u00EDslu\u0161n\u00FDch onemocn\u011Bn\u00ED. L\u00E9\u010Dba ren\u00E1ln\u00EDho karcinomu u tohoto syndromu by m\u011Bla b\u00FDt radik\u00E1ln\u00ED s ohledem na jeho agresivn\u00ED povahu." . "Suppl." . "cutaneous leiomyomatosis - uterine leiomyomatosis - renal cancer - fumarate hydratase - FH gene - hereditary cancer syndromes"@en . "[A5568C9ECF57]" . .