Detection of chromosome 13 abnormalities and 14q32
translocations in multiple myeloma using simultaneous
imunofluorescent labelling of malignant plasma cells and
fluorescent in situ hybridization

J 2004

Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization

KUGLÍK, Petr, Vladimíra VRANOVÁ, Renata KUPSKÁ, Alexandra OLTOVÁ, Roman HÁJEK et. al.

Základní údaje

Originální název

Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization

Název česky

Studium delece/monozomie chromozomu 13 a translokace 14q32 u pacientů s mnohočetným myelomem pomoci imunofluorescenčního značení maligních plazmatických buněk a techniky FISH.

Autoři

KUGLÍK, Petr (203 Česká republika, garant), Vladimíra VRANOVÁ (703 Slovensko), Renata KUPSKÁ (203 Česká republika), Alexandra OLTOVÁ (203 Česká republika) a Roman HÁJEK (203 Česká republika)

Vydání

European Journal of Human Genetics, Nature Publishing Group, 2004, 1018-4813

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.741

Kód RIV

RIV/00216224:14330/04:00018997

Organizační jednotka

Fakulta informatiky

Klíčová slova anglicky

Multiple myeloma; chromosome aberrations; FISH; FICTION

Štítky

chromosome aberrations, Fiction, FISH, multiple myeloma

Změněno: 6. 7. 2007 11:25, RNDr. JUDr. Vladimír Šmíd, CSc.

Anotace

ORIG CZ

V originále

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.

Česky

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.

Návaznosti

NR8183, projekt VaV

Název: Molekulárně-cytogenetická analýza značených plazmatických buněk a prognostický význam klonálních chromosomových aberací u mnohočetného myelomu

Citovat

KUGLÍK, Petr, Vladimíra VRANOVÁ, Renata KUPSKÁ, Alexandra OLTOVÁ a 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, roč. 12, Suppl. 1, s. 170. ISSN 1018-4813.

@article{618636,
   author = {Kuglík, Petr and Vranová, Vladimíra and Kupská, Renata and Oltová, Alexandra and Hájek, Roman},
   article_number = {Suppl. 1},
   keywords = {Multiple myeloma; chromosome aberrations; FISH; FICTION},
   language = {eng},
   issn = {1018-4813},
   journal = {European Journal of Human Genetics},
   title = {Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization},
   volume = {12},
   year = {2004}
}

TY  - JOUR
ID  - 618636
AU  - Kuglík, Petr - Vranová, Vladimíra - Kupská, Renata - Oltová, Alexandra - Hájek, Roman
PY  - 2004
TI  - Detection of chromosome 13 abnormalities and 14q32 translocations in multiple myeloma using simultaneous imunofluorescent labelling of malignant plasma cells and fluorescent in situ hybridization
JF  - European Journal of Human Genetics
VL  - 12
IS  - Suppl. 1
SP  - 170
EP  - 170
PB  - Nature Publishing Group
SN  - 10184813
KW  - Multiple myeloma
KW  - chromosome aberrations
KW  - FISH
KW  - FICTION
N2  - 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.
ER  -

KUGLÍK, Petr, Vladimíra VRANOVÁ, Renata KUPSKÁ, Alexandra OLTOVÁ a 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. \textit{European Journal of Human Genetics}. Nature Publishing Group, 2004, roč.~12, Suppl. 1, s.~170. ISSN~1018-4813.

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