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题目:: CCND2 rearrangements are the most frequent genetic events in cyclin D1(-) mantle cell lymphoma.
作者:: Salaverria(Itziar),Royo(Cristina),Carvajal-Cuenca(Alejandra),Clot(Guillem),Navarro(Alba),Valera(Alejandra),Song(Joo Y),Woroniecka(Renata),Rymkiewicz(Grzegorz),Klapper(Wolfram),Hartmann(Elena M),Sujobert(Pierre),Wlodarska(Iwona),Ferry(Judith A),Gaulard(Philippe),Ott(German),Rosenwald(Andreas),Lopez-Guillermo(Armando),Quintanilla-Martinez(Leticia),Harris(Nancy L),Jaffe(Elaine S),Siebert(Reiner),Campo(Elias),Beà(Sílvia)
状态:: 发布时间2013-02-22 , 更新时间 2015-02-19
期刊:: Blood
摘要:: Cyclin D1(-) mantle cell lymphomas (MCLs) are not well characterized, in part because of the difficulties in their recognition. SOX11 has been identified recently as a reliable biomarker of MCL that is also expressed in the cyclin D1(-) variant. We investigated 40 lymphomas with MCL morphology and immunophenotype that were negative for cyclin D1 expression/t(11;14)(q13;q32) but positive for SOX11. These tumors presented clinically with generalized lymphadenopathy, advanced stage, and poor outcome (5-year overall survival, 48%). Chromosomal rearrangements of the CCND2 locus were detected in 55% of the cases, with an IG gene as partner in 18 of 22, in particular with light chains (10 IGK@ and 5 IGL@). No mutations in the phosphorylation motifs of CCND1, CCND2, or CCND3 were detected. The global genomic profile and the high complexity of the 32 cyclin D1(-) SOX11(+) MCL patients analyzed by copy number arrays were similar to the conventional cyclin D1/SOX11 MCL. 17p deletions and high Ki67 expression conferred a significantly worse outcome for the patients. This comprehensive characterization of a large series of cyclin D1(-) MCL patients indicates that these tumors are clinically and biologically similar to the conventional cyclin D1(+) MCL and provides a basis for the proper identification and clinical management of these patients.
语言:: eng
DOI:

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