Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance

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Publikace nespadá pod Ekonomicko-správní fakultu, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.
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MIKULÁŠOVÁ Aneta SMETANA Jan WAYHELOVÁ Markéta JANYŠKOVÁ Helena SANDECKÁ Viera KUFOVÁ Zuzana ALMÁŠI Martina JARKOVSKÝ Jiří GREGORA Evzen KESSLER Petr WROBEL Marek WALKER Brian WARDELL Christopher MORGAN Gareth HÁJEK Roman KUGLÍK Petr

Rok publikování 2016
Druh Článek v odborném periodiku
Časopis / Zdroj European Journal of Haematology
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
www http://onlinelibrary.wiley.com/doi/10.1111/ejh.12774/full
Doi http://dx.doi.org/10.1111/ejh.12774
Obor Genetika a molekulární biologie
Klíčová slova DNA copy-number changes; DNA microarrays; monoclonal gammopathies; prognosis
Popis Monoclonal gammopathy of undetermined significance (MGUS) is a benign condition with an approximate 1% annual risk of symptomatic plasma cell disorder development, mostly to multiple myeloma (MM). We performed genome-wide screening of copy-number alterations (CNAs) in 90 MGUS and 33 MM patients using high-density DNA microarrays. We identified CNAs in a smaller proportion of MGUS (65.6%) than in MM (100.0%, p=1.31×10-5 ) and showed median number of CNAs is lower in MGUS (3, range 0-22) than in MM (13, range 4-38, p=1.82×10-10 ). In the MGUS cohort, the most frequent losses were located at 1p (5.6%), 6q (6.7%), 13q (30.0%), 14q (14.4%), 16q (8.9%), 21q (5.6%) and gains at 1q (23.3%), 2p (6.7%), 6p (13.3%) and Xq (7.8%). Hyperdiploidy was detected in 38.9% of MGUS cases and the most frequent whole chromosome gains were 3 (25.6%), 5 (23.3%), 9 (37.8%), 15 (23.3%) and 19 (32.2%). We also identified CNAs such as 1p, 6q, 8p, 12p, 13q, 16q losses, 1q gain and hypodiploidy, which are potentially associated with an adverse prognosis in MGUS. In summary, we showed that MGUS is similar to MM in that it is a genetically heterogeneous disorder, but overall cytogenetic instability is lower than in MM, which confirms that genetic abnormalities play important role in monoclonal gammopathies.
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