期刊
PLOS ONE
卷 10, 期 4, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0123922
关键词
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资金
- Fellinger Krebsforschung
- Land Steiermark
- Hygienefond
- Jubilaeumsfond der OENB
- TART-Funding-Program of the Medical University of Graz
Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-kappa B activation. However, genetic alterations causing constitutive NF-kappa B activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-kappa B pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients.
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