Informace o publikaci

Genome-Wide Screening of Cytogenetic Abnormalities in Multiple Myeloma Patients Using Array-CGH Technique: A Czech Multicenter Experience

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SMETANA Jan FRÖHLICH Jan ZAORALOVÁ Romana VALLOVÁ Vladimíra GREŠLIKOVÁ Henrieta KUPSKÁ Renata NĚMEC Pavel MIKULÁŠOVÁ Aneta ALMAŠI Martina POUR Luděk ADAM Zdeněk SANDECKÁ Viera ZAHRADOVÁ Lenka HÁJEK Roman KUGLÍK Petr

Rok publikování 2014
Druh Článek v odborném periodiku
Časopis / Zdroj BioMed Research International
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
www http://www.hindawi.com/journals/bmri/2014/209670/
Doi http://dx.doi.org/10.1155/2014/209670
Obor Genetika a molekulární biologie
Klíčová slova Multiple myeloma; genome-wide profiling; array-CGH; cytogenetics; FISH
Popis Characteristic recurrent copy number aberrations (CNAs) play a key role in multiple myeloma (MM) pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH) provides a powerful tool for genome-wide classification of CNAs and thus should be implemented into MM routine diagnostics. We demonstrate the possibility of effective utilization of oligonucleotide-based aCGH in 91 MM patients. Chromosomal aberrations associated with effect on the prognosis of MM were initially evaluated by I-FISH and were found in 93.4% (85/91). Incidence of hyperdiploidy was 49.5% (45/91); del(13)(q14) was detected in 57.1% (52/91); gain(1)(q21) occurred in 58.2% (53/91); del(17)(p13) was observed in 15.4% (14/91); and t(4;14)(p16;q32) was found in 18.6% (16/86). Genome-wide screening using Agilent 44K aCGH microarrays revealed copy number alterations in 100% (91/91). Most common deletions were found at 13q (58.9%), 1p (39.6%), and 8p (31.1%), whereas gain of whole 1q was the most often duplicated region (50.6%). Furthermore, frequent homozygous deletions of genes playing important role in myeloma biology such as TRAF3, BIRC1/BIRC2, RB1, or CDKN2C were observed. Taken together, we demonstrated the utilization of aCGH technique in clinical diagnostics as powerful tool for identification of unbalanced genomic abnormalities with prognostic significance for MM patients.
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