Division of Hematology - Oncology, Mayo Clinic, Scottsdale, AZ, USA.
Br J Haematol. 2015 Feb;168(4):507-10. doi: 10.1111/bjh.13171. Epub 2014 Oct 10.
We constructed a multiple myeloma (MM)-specific gene panel for targeted sequencing and investigated 72 untreated high-risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high-risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.
我们构建了一个多发性骨髓瘤(MM)特异性基因panel 用于靶向测序,并对 72 例未经治疗的高危(del17p)MM 患者进行了研究。78%的患者存在基因突变。虽然大多数研究基因的突变频率与已发表文献相似,但 TP53 突变的发生率增加(28%),并且未发现 FAM46C 基因突变。本研究全面深入地了解了 del17p 高危 MM 的突变景观。此外,我们的工作还证明了定制测序 panel 的实际应用,这是一种简单、廉价且快速的方法,可以对 MM 的突变谱进行特征分析。