KUGLÍK, Petr, Vladimíra VRANOVÁ, Renata KUPSKÁ, Alexandra OLTOVÁ and Roman HÁJEK. Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization. European Journal of Human Genetics. Nature Publishing Group, 2004, vol. 12, Suppl. 1, p. 170. ISSN 1018-4813.
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Basic information
Original name Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization
Name in Czech Studium delece/monozomie chromozomu 13 a translokace 14q32 u pacientů s mnohočetným myelomem pomoci imunofluorescenčního značení maligních plazmatických buněk a techniky FISH.
Authors KUGLÍK, Petr (203 Czech Republic, guarantor), Vladimíra VRANOVÁ (703 Slovakia), Renata KUPSKÁ (203 Czech Republic), Alexandra OLTOVÁ (203 Czech Republic) and Roman HÁJEK (203 Czech Republic).
Edition European Journal of Human Genetics, Nature Publishing Group, 2004, 1018-4813.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 2.741
RIV identification code RIV/00216224:14330/04:00018997
Organization unit Faculty of Informatics
Keywords in English Multiple myeloma; chromosome aberrations; FISH; FICTION
Tags chromosome aberrations, Fiction, FISH, multiple myeloma
Changed by Changed by: RNDr. JUDr. Vladimír Šmíd, CSc., učo 1084. Changed: 6/7/2007 11:25.
Abstract
Chromosomal aberrations such as 13q14 deletions or translocations involving 14q32 are described to be common cytogenetic findings in multiple myeloma (MM). Especially, deletions of 13q14 has been associated with an adverse outcome and it has been proposed as one of the most important prognostic factors for MM patients. Because metaphase cytogenetic studies in MM are hampered by a low proliferative activity of myeloma cells in vitro, interphase fluorescent in situ hybridization (FISH) using specific DNA probes is the technique most widely used for the determination of genomic aberrations in this disease. In the present study we have performed fluorescence in situ hybridization experiments with probes directed to the 13q14 and 14q32 chromosomal regions in 30 patients with MM. For identification of malignant plasma cells in bone marrow samples, we have used cytoplasmic immunoglobulin (cIg) labelling methodology (Ahmann et al. 1998) This method allowed us to identify simultaneously monotypic plasma cells by monoclonal antibody fluorescence (anti-Ű or anti-Ü) and detect chromosomal abnormalities by FISH (cIg-FISH). FISH studies revealed that monoallelic deletions of 13q14 or monosomy 13 were present in 15 of 30 (50 %) patients, 14q32 abnormalities were observed in 9 of 30 (33 %) patients with MM. Our results confirmed that by combining immunofluorescent labelling of myeloma cells and FISH, 13q14 deletion can be proved also in patients with apparently normal karyotype in unselected bone marrow sample. We conclude that cIg-FISH procedure represents simple and reliable methods that can increase the incidence of chromosomal abnormalities required for prognostic evaluations of patients with MM.
Abstract (in Czech)
Práce se zabývá detekcí prognosticky významných chromozomových abnormalit u pacient s mnohoetným myelomem (delece/monozomie chromozomu 13, translokace 14q32) pomocí imunofluorescenního znaení maligních plazmatických bunk v kostní deni a techniky FISH.
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NR8183, research and development projectName: Molekulárně-cytogenetická analýza značených plazmatických buněk a prognostický význam klonálních chromosomových aberací u mnohočetného myelomu
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