作者: Marta Chesi , P. Leif Bergsagel
DOI: 10.1007/S12185-013-1291-2
关键词: Chromosomal translocation 、 Immunoglobulin gene 、 Bortezomib 、 Hematology 、 Neuroblastoma RAS viral oncogene homolog 、 Multiple myeloma 、 KRAS 、 Ectopic expression 、 Biology 、 Genetics 、 Internal medicine
摘要: Multiple myeloma is divided into two distinct genetic subtypes based on chromosome content. Hyperdiploid characterized by multiple trisomies of chromosomes 3, 5, 7, 9 11, 15, 19 and 21, lacks recurrent immunoglobulin gene translocations. Non-hyperdiploid in contrast translocations t(4;14), t(14;16), t(14;20), t(6;14) t(11;14). A unifying event the pathogenesis dysregulated expression a cyclin D gene, either directly juxtaposition to an enhancer, as result ectopic MAF family transcription factor, or indirectly yet unidentified mechanisms. Secondary events include rearrangements MYC, activating mutations NRAS, KRAS BRAF, promiscuous array that activate NFkB deletions 17p. Among poor-risk features are del 17p gains 1q. Available evidence supports use risk-stratified approach treatment patients with myeloma, early prolonged bortezomib particularly t(4;14)